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GTR Home > Laboratories > Centogene AG - the Rare Disease Company

Centogene AG - the Rare Disease Company

GTR Lab ID: 279559, Last updated:2022-11-01

Personnel

Conditions and tests

  • 11p partial monosomy syndrome1 test
  • 2-aminoadipic 2-oxoadipic aciduria1 test
  • 3 beta-Hydroxysteroid dehydrogenase deficiency9 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency7 tests
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency7 tests
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency8 tests
  • 3-methylglutaconic aciduria type 19 tests
  • 3-Methylglutaconic aciduria type 27 tests
  • 3-Methylglutaconic aciduria type 31 test
  • 3-methylglutaconic aciduria type 58 tests
  • 3-methylglutaconic aciduria type 88 tests
  • 3-methylglutaconic aciduria type 95 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia1 test
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome9 tests
  • 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA1 test
  • 3M syndrome 15 tests
  • 3M syndrome 23 tests
  • 3M syndrome 31 test
  • 3MC syndrome 13 tests
  • 3MC syndrome 22 tests
  • 3MC syndrome 32 tests
  • 46,XX ovarian dysgenesis-short stature syndrome2 tests
  • 46,XX sex reversal 41 test
  • 46,xx sex reversal 51 test
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency3 tests
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
  • 46,XY sex reversal 11 test
  • 46,XY sex reversal 25 tests
  • 46,XY sex reversal 31 test
  • 46,XY sex reversal 61 test
  • 46,XY sex reversal 73 tests
  • 46,XY sex reversal 93 tests
  • 5p partial monosomy syndrome1 test
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency8 tests
  • Aarskog syndrome4 tests
  • ABCD syndrome7 tests
  • Abdominal obesity-metabolic syndrome 32 tests
  • Abetalipoproteinaemia5 tests
  • Ablepharon macrostomia syndrome1 test
  • Abortive cerebellar ataxia9 tests
  • ABri amyloidosis1 test
  • Abruzzo-Erickson syndrome1 test
  • Acatalasia3 tests
  • Accelerated tumor formation, susceptibility to1 test
  • Acetyl-CoA: carboxylase deficiency3 tests
  • Achondrogenesis type II1 test
  • Achondrogenesis, type IA4 tests
  • Achondrogenesis, type IB1 test
  • Achondroplasia1 test
  • Achromatopsia 22 tests
  • Achromatopsia 35 tests
  • Achromatopsia 42 tests
  • Achromatopsia 72 tests
  • Acne inversa, familial, 12 tests
  • Acne inversa, familial, 22 tests
  • Acne inversa, familial, 31 test
  • Acquired hemoglobin H disease12 tests
  • Acral peeling skin syndrome2 tests
  • Acrocallosal syndrome10 tests
  • Acrocapitofemoral dysplasia4 tests
  • Acrocephalosyndactyly type I1 test
  • Acrodermatitis continua suppurativa of Hallopeau2 tests
  • Acrodysostosis 1 with or without hormone resistance8 tests
  • Acrodysostosis 2 with or without hormone resistance5 tests
  • Acroerythrokeratoderma1 test
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromelic frontonasal dysostosis1 test
  • Acromesomelic dysplasia 1, Maroteaux type1 test
  • Acromesomelic dysplasia 2B1 test
  • Acromesomelic dysplasia 31 test
  • Acromicric dysplasia2 tests
  • Acroosteolysis-keloid-like lesions-premature aging syndrome1 test
  • ACTH-independent macronodular adrenal hyperplasia 13 tests
  • ACTH-independent macronodular adrenal hyperplasia 25 tests
  • Actin accumulation myopathy6 tests
  • Action myoclonus-renal failure syndrome6 tests
  • Acute erythroleukemia, familial1 test
  • Acute febrile neutrophilic dermatosis2 tests
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome4 tests
  • Acute intermittent porphyria6 tests
  • Acute lymphoid leukemia8 tests
  • Acute myeloid leukemia7 tests
  • Acute necrotizing encephalopathy of childhood1 test
  • Acute promyelocytic leukemia1 test
  • Acyl-CoA dehydrogenase 9 deficiency9 tests
  • Acyl-CoA oxidase deficiency1 test
  • Adams-Oliver syndrome 18 tests
  • Adams-Oliver syndrome 25 tests
  • Adams-Oliver syndrome 32 tests
  • Adams-Oliver syndrome 44 tests
  • Adams-Oliver syndrome 53 tests
  • Adams-Oliver syndrome 64 tests
  • ADan amyloidosis5 tests
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenosine kinase deficiency5 tests
  • Adenylosuccinate lyase deficiency7 tests
  • Adermatoglyphia1 test
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3 tests
  • Adrenocortical carcinoma, hereditary8 tests
  • Adrenoleukodystrophy12 tests
  • Adult hepatocellular carcinoma3 tests
  • Adult hypophosphatasia9 tests
  • Adult polyglucosan body disease10 tests
  • ADULT syndrome4 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy1 test
  • Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency1 test
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
  • Advanced sleep phase syndrome 13 tests
  • Agammaglobulinemia 2, autosomal recessive2 tests
  • Agammaglobulinemia 3, autosomal recessive3 tests
  • Agammaglobulinemia 4, autosomal recessive3 tests
  • Agammaglobulinemia 5, autosomal dominant2 tests
  • Agammaglobulinemia 6, autosomal recessive3 tests
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Agammaglobulinemia 8, autosomal dominant1 test
  • AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE1 test
  • Age related macular degeneration 12 tests
  • Age related macular degeneration 121 test
  • Age related macular degeneration 131 test
  • Age related macular degeneration 143 tests
  • Age related macular degeneration 151 test
  • Age related macular degeneration 21 test
  • Age related macular degeneration 51 test
  • Age related macular degeneration 62 tests
  • Age related macular degeneration 74 tests
  • Age related macular degeneration 91 test
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1 test
  • Agenesis of the corpus callosum with peripheral neuropathy5 tests
  • Aggressive systemic mastocytosis1 test
  • Agnathia-otocephaly complex1 test
  • AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome4 tests
  • AICA-ribosiduria4 tests
  • Aicardi Goutieres syndrome1 test
  • Aicardi-Goutieres syndrome 11 test
  • Aicardi-Goutieres syndrome 210 tests
  • Aicardi-Goutieres syndrome 37 tests
  • Aicardi-Goutieres syndrome 48 tests
  • Aicardi-Goutieres syndrome 57 tests
  • Aicardi-Goutieres syndrome 62 tests
  • Aicardi-Goutieres syndrome 71 test
  • Alacrima, achalasia, and intellectual disability syndrome6 tests
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Alagille syndrome due to a NOTCH2 point mutation2 tests
  • Alazami-Yuan syndrome4 tests
  • Alcohol dependence1 test
  • Alcohol sensitivity, acute3 tests
  • ALDH18A1-related de Barsy syndrome1 test
  • Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
  • Alexander disease8 tests
  • ALG1-congenital disorder of glycosylation5 tests
  • ALG11-congenital disorder of glycosylation7 tests
  • ALG12-congenital disorder of glycosylation6 tests
  • ALG2-congenital disorder of glycosylation1 test
  • ALG3-congenital disorder of glycosylation6 tests
  • ALG6-congenital disorder of glycosylation 1C5 tests
  • ALG8 congenital disorder of glycosylation4 tests
  • ALG9 congenital disorder of glycosylation1 test
  • Alkaptonuria5 tests
  • Alkuraya-Kucinskas syndrome3 tests
  • Allan-Herndon-Dudley syndrome8 tests
  • Alobar holoprosencephaly1 test
  • Alopecia universalis congenita1 test
  • Alopecia-intellectual disability syndrome 41 test
  • Alpha mannosidosis type II6 tests
  • alpha Thalassemia4 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha-1-antitrypsin deficiency5 tests
  • Alpha-2-plasmin inhibitor deficiency2 tests
  • Alpha-methylacyl-CoA racemase deficiency5 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 112 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 21 test
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 21 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment2 tests
  • Alveolar rhabdomyosarcoma5 tests
  • Alzheimer disease 26 tests
  • Alzheimer disease 37 tests
  • Alzheimer disease 41 test
  • Alzheimer disease 93 tests
  • Alzheimer disease type 15 tests
  • Amelocerebrohypohidrotic syndrome3 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta type 1A1 test
  • Amelogenesis imperfecta type 1C1 test
  • Amelogenesis imperfecta type 1E2 tests
  • Amelogenesis imperfecta type 1H1 test
  • Aminoacylase 1 deficiency5 tests
  • Aminoglycoside-induced deafness7 tests
  • Amish lethal microcephaly9 tests
  • Amyloidogenic transthyretin amyloidosis5 tests
  • Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis type 19 tests
  • Amyotrophic lateral sclerosis type 103 tests
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 124 tests
  • Amyotrophic lateral sclerosis type 153 tests
  • Amyotrophic lateral sclerosis type 161 test
  • Amyotrophic lateral sclerosis type 183 tests
  • Amyotrophic lateral sclerosis type 194 tests
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 202 tests
  • Amyotrophic lateral sclerosis type 214 tests
  • Amyotrophic lateral sclerosis type 226 tests
  • Amyotrophic lateral sclerosis type 231 test
  • Amyotrophic lateral sclerosis type 46 tests
  • Amyotrophic lateral sclerosis type 51 test
  • Amyotrophic lateral sclerosis type 64 tests
  • Amyotrophic lateral sclerosis type 84 tests
  • Amyotrophic lateral sclerosis type 93 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 247 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 251 test
  • Amyotrophic neuralgia1 test
  • Anaplastic oligoastrocytoma2 tests
  • Anauxetic dysplasia 23 tests
  • Anauxetic dysplasia 32 tests
  • Andersen Tawil syndrome4 tests
  • Androgen resistance syndrome3 tests
  • Anemia, congenital dyserythropoietic, type 1a2 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency10 tests
  • Aneurysm-osteoarthritis syndrome4 tests
  • Angelman syndrome6 tests
  • Angelman syndrome due to imprinting defect in 15q11-q131 test
  • Angioedema, hereditary, 41 test
  • Aniridia 11 test
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
  • Annular epidermolytic ichthyosis2 tests
  • Anophthalmia/microphthalmia-esophageal atresia syndrome10 tests
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 41 test
  • Anterior segment dysgenesis 64 tests
  • Anterior segment dysgenesis 75 tests
  • Antigen in Cartwright blood group system3 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis6 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Anxiety3 tests
  • Aortic aneurysm, familial thoracic 103 tests
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 84 tests
  • Aortic aneurysm, familial thoracic 94 tests
  • Aortic valve disease 17 tests
  • Aortic valve disease 32 tests
  • Aplastic anemia13 tests
  • Apolipoprotein c-III deficiency2 tests
  • Apparent mineralocorticoid excess2 tests
  • Arginase deficiency7 tests
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency6 tests
  • Ariboflavinosis2 tests
  • Aromatase deficiency6 tests
  • Aromatase excess syndrome1 test
  • Arrhinia with choanal atresia and microphthalmia syndrome1 test
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma1 test
  • Arrhythmogenic right ventricular dysplasia 16 tests
  • Arrhythmogenic right ventricular dysplasia 101 test
  • Arrhythmogenic right ventricular dysplasia 112 tests
  • Arrhythmogenic right ventricular dysplasia 121 test
  • Arrhythmogenic right ventricular dysplasia 134 tests
  • Arrhythmogenic right ventricular dysplasia 21 test
  • Arrhythmogenic right ventricular dysplasia 51 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Arrhythmogenic right ventricular dysplasia, familial, 142 tests
  • Arterial calcification, generalized, of infancy, 15 tests
  • Arterial calcification, generalized, of infancy, 21 test
  • Arterial tortuosity syndrome5 tests
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect3 tests
  • Arthrogryposis multiplex congenita 3, myogenic type1 test
  • Arthrogryposis multiplex congenita 54 tests
  • Arthrogryposis multiplex congenita 65 tests
  • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development3 tests
  • Arthrogryposis, distal, type 111 test
  • Arthrogryposis, distal, type 1A1 test
  • Arthrogryposis, distal, type 1B1 test
  • Arthrogryposis, distal, type 2B24 tests
  • Arthrogryposis, distal, type 2B31 test
  • Arthrogryposis, distal, with impaired proprioception and touch4 tests
  • Arthrogryposis, Perthes disease, and upward gaze palsy1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 18 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 27 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Aspartylglucosaminuria6 tests
  • Asperger syndrome, X-linked, susceptibility to, 13 tests
  • Asperger syndrome, X-linked, susceptibility to, 21 test
  • Asphyxiating thoracic dystrophy 24 tests
  • Asphyxiating thoracic dystrophy 36 tests
  • Asphyxiating thoracic dystrophy 41 test
  • Asphyxiating thoracic dystrophy 51 test
  • Astrocytoma, anaplastic2 tests
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome5 tests
  • Ataxia - oculomotor apraxia type 43 tests
  • Ataxia with oculomotor apraxia type 35 tests
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia9 tests
  • Ataxia-hypogonadism-choroidal dystrophy syndrome1 test
  • Ataxia-pancytopenia syndrome2 tests
  • Ataxia-telangiectasia syndrome17 tests
  • Ataxia-telangiectasia-like disorder 110 tests
  • Ataxia-telangiectasia-like disorder 21 test
  • Atelosteogenesis type I4 tests
  • Atelosteogenesis type II7 tests
  • Atelosteogenesis type III1 test
  • Atrial conduction disease2 tests
  • Atrial fibrillation, familial, 101 test
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 122 tests
  • Atrial fibrillation, familial, 142 tests
  • Atrial fibrillation, familial, 182 tests
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 73 tests
  • Atrial fibrillation, familial, 92 tests
  • Atrial septal defect 24 tests
  • Atrial septal defect 31 test
  • Atrial septal defect 41 test
  • Atrial septal defect 51 test
  • Atrial septal defect 62 tests
  • Atrial septal defect 72 tests
  • Atrial septal defect 81 test
  • Atrial septal defect 91 test
  • Atrial standstill 12 tests
  • Atrial standstill 22 tests
  • Atrichia with papular lesions1 test
  • Atrioventricular septal defect 51 test
  • Atrioventricular septal defect, susceptibility to, 25 tests
  • Attention deficit-hyperactivity disorder 81 test
  • Atypical Gaucher disease due to saposin C deficiency1 test
  • Atypical glycine encephalopathy3 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with C3 anomaly3 tests
  • Atypical hemolytic-uremic syndrome with I factor anomaly3 tests
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly4 tests
  • Auditory neuropathy, autosomal dominant 31 test
  • Auditory neuropathy-optic atrophy syndrome6 tests
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 22 tests
  • Autism spectrum disorder - epilepsy - arthrogryposis syndrome4 tests
  • Autism spectrum disorder due to AUTS2 deficiency2 tests
  • Autism, susceptibility to, 154 tests
  • Autism, susceptibility to, 162 tests
  • Autism, susceptibility to, 172 tests
  • Autism, susceptibility to, 182 tests
  • Autism, susceptibility to, 52 tests
  • Autism, susceptibility to, X-linked 11 test
  • Autism, susceptibility to, X-linked 23 tests
  • Autism, susceptibility to, X-linked 37 tests
  • Autism, susceptibility to, X-linked 42 tests
  • Autism, susceptibility to, X-linked 51 test
  • Autoimmune disease, multisystem, infantile-onset, 21 test
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
  • Autoimmune interstitial lung disease-arthritis syndrome2 tests
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1 test
  • Autoimmune lymphoproliferative syndrome type 18 tests
  • Autoimmune lymphoproliferative syndrome type 2A1 test
  • Autoimmune lymphoproliferative syndrome type 2B1 test
  • Autoimmune lymphoproliferative syndrome type 46 tests
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD3 tests
  • Autoimmune thrombocytopenic purpura2 tests
  • Autoimmune thyroid disease, susceptibility to, 33 tests
  • Autoinflammation with arthritis and dyskeratosis1 test
  • Autoinflammation with episodic fever and lymphadenopathy1 test
  • Autoinflammation, immune dysregulation, and eosinophilia1 test
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation5 tests
  • Autoinflammatory disease, X-linked1 test
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis1 test
  • Autoinflammatory syndrome, familial, Behcet-like 12 tests
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant aplasia and myelodysplasia2 tests
  • Autosomal dominant auditory neuropathy 12 tests
  • Autosomal dominant centronuclear myopathy6 tests
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy6 tests
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W3 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
  • Autosomal dominant congenital benign spinal muscular atrophy1 test
  • Autosomal dominant deafness - onychodystrophy syndrome1 test
  • Autosomal dominant distal renal tubular acidosis1 test
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
  • Autosomal dominant hypocalcemia 18 tests
  • Autosomal dominant hypocalcemia 24 tests
  • Autosomal dominant hypophosphatemic rickets7 tests
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4 tests
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant Kenny-Caffey syndrome1 test
  • Autosomal dominant keratitis1 test
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)3 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1F3 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1G3 tests
  • Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency2 tests
  • Autosomal dominant mitochondrial myopathy with exercise intolerance3 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 13 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 33 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 43 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 55 tests
  • Autosomal dominant non-syndromic intellectual disability3 tests
  • Autosomal dominant nonsyndromic hearing loss 17 tests
  • Autosomal dominant nonsyndromic hearing loss 101 test
  • Autosomal dominant nonsyndromic hearing loss 111 test
  • Autosomal dominant nonsyndromic hearing loss 121 test
  • Autosomal dominant nonsyndromic hearing loss 138 tests
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant nonsyndromic hearing loss 221 test
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 273 tests
  • Autosomal dominant nonsyndromic hearing loss 281 test
  • Autosomal dominant nonsyndromic hearing loss 2A1 test
  • Autosomal dominant nonsyndromic hearing loss 2B1 test
  • Autosomal dominant nonsyndromic hearing loss 361 test
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 3B4 tests
  • Autosomal dominant nonsyndromic hearing loss 401 test
  • Autosomal dominant nonsyndromic hearing loss 411 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 4A2 tests
  • Autosomal dominant nonsyndromic hearing loss 4B1 test
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 561 test
  • Autosomal dominant nonsyndromic hearing loss 611 tests
  • Autosomal dominant nonsyndromic hearing loss 646 tests
  • Autosomal dominant nonsyndromic hearing loss 651 test
  • Autosomal dominant nonsyndromic hearing loss 661 test
  • Autosomal dominant nonsyndromic hearing loss 671 test
  • Autosomal dominant nonsyndromic hearing loss 681 test
  • Autosomal dominant nonsyndromic hearing loss 691 test
  • Autosomal dominant nonsyndromic hearing loss 701 test
  • Autosomal dominant nonsyndromic hearing loss 92 tests
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant Parkinson disease 11 test
  • Autosomal dominant Parkinson disease 44 tests
  • Autosomal dominant Parkinson disease 83 tests
  • Autosomal dominant popliteal pterygium syndrome3 tests
  • Autosomal dominant pseudohypoaldosteronism type 16 tests
  • Autosomal dominant Robinow syndrome 16 tests
  • Autosomal dominant Robinow syndrome 34 tests
  • Autosomal dominant sensory ataxia 11 test
  • Autosomal dominant sideroblastic anemia5 tests
  • Autosomal dominant slowed nerve conduction velocity3 tests
  • Autosomal dominant striatal neurodegeneration type 11 test
  • Autosomal dominant vitreoretinochoroidopathy1 test
  • Autosomal dominant woolly hair1 test
  • Autosomal recessive Alport syndrome6 tests
  • Autosomal recessive amelia1 test
  • Autosomal recessive ataxia due to ubiquinone deficiency8 tests
  • Autosomal recessive ataxia, Beauce type10 tests
  • Autosomal recessive axonal neuropathy with neuromyotonia4 tests
  • Autosomal recessive bestrophinopathy1 test
  • Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency2 tests
  • Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
  • Autosomal recessive complex spastic paraplegia type 9B1 test
  • Autosomal recessive congenital ichthyosis 14 tests
  • Autosomal recessive congenital ichthyosis 103 tests
  • Autosomal recessive congenital ichthyosis 112 tests
  • Autosomal recessive congenital ichthyosis 23 tests
  • Autosomal recessive congenital ichthyosis 33 tests
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B4 tests
  • Autosomal recessive congenital ichthyosis 53 tests
  • Autosomal recessive congenital ichthyosis 63 tests
  • Autosomal recessive congenital ichthyosis 83 tests
  • Autosomal recessive congenital ichthyosis 93 tests
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive cutis laxa type 2C3 tests
  • Autosomal recessive cutis laxa type 2D5 tests
  • Autosomal recessive distal spinal muscular atrophy 11 test
  • Autosomal recessive distal spinal muscular atrophy 23 tests
  • Autosomal recessive DOPA responsive dystonia5 tests
  • Autosomal recessive early-onset Parkinson disease 233 tests
  • Autosomal recessive early-onset Parkinson disease 63 tests
  • Autosomal recessive early-onset Parkinson disease 74 tests
  • Autosomal recessive hypophosphatemic bone disease5 tests
  • Autosomal recessive juvenile Parkinson disease 22 tests
  • Autosomal recessive Kenny-Caffey syndrome5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2I8 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2P6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2R13 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2T6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2X3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type R183 tests
  • Autosomal recessive lower motor neuron disease with childhood onset2 tests
  • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency3 tests
  • Autosomal recessive multiple pterygium syndrome4 tests
  • Autosomal recessive nonsyndromic hearing loss 1011 test
  • Autosomal recessive nonsyndromic hearing loss 1021 test
  • Autosomal recessive nonsyndromic hearing loss 1031 test
  • Autosomal recessive nonsyndromic hearing loss 122 tests
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 161 test
  • Autosomal recessive nonsyndromic hearing loss 18A5 tests
  • Autosomal recessive nonsyndromic hearing loss 18B1 test
  • Autosomal recessive nonsyndromic hearing loss 1A8 tests
  • Autosomal recessive nonsyndromic hearing loss 1B1 test
  • Autosomal recessive nonsyndromic hearing loss 29 tests
  • Autosomal recessive nonsyndromic hearing loss 214 tests
  • Autosomal recessive nonsyndromic hearing loss 221 test
  • Autosomal recessive nonsyndromic hearing loss 231 test
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 251 test
  • Autosomal recessive nonsyndromic hearing loss 261 test
  • Autosomal recessive nonsyndromic hearing loss 283 tests
  • Autosomal recessive nonsyndromic hearing loss 291 test
  • Autosomal recessive nonsyndromic hearing loss 31 test
  • Autosomal recessive nonsyndromic hearing loss 301 test
  • Autosomal recessive nonsyndromic hearing loss 311 test
  • Autosomal recessive nonsyndromic hearing loss 321 test
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 373 tests
  • Autosomal recessive nonsyndromic hearing loss 393 tests
  • Autosomal recessive nonsyndromic hearing loss 46 tests
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 441 test
  • Autosomal recessive nonsyndromic hearing loss 485 tests
  • Autosomal recessive nonsyndromic hearing loss 491 test
  • Autosomal recessive nonsyndromic hearing loss 531 test
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Autosomal recessive nonsyndromic hearing loss 61 test
  • Autosomal recessive nonsyndromic hearing loss 611 test
  • Autosomal recessive nonsyndromic hearing loss 631 test
  • Autosomal recessive nonsyndromic hearing loss 661 test
  • Autosomal recessive nonsyndromic hearing loss 671 test
  • Autosomal recessive nonsyndromic hearing loss 681 test
  • Autosomal recessive nonsyndromic hearing loss 72 tests
  • Autosomal recessive nonsyndromic hearing loss 701 test
  • Autosomal recessive nonsyndromic hearing loss 745 tests
  • Autosomal recessive nonsyndromic hearing loss 761 test
  • Autosomal recessive nonsyndromic hearing loss 773 tests
  • Autosomal recessive nonsyndromic hearing loss 791 test
  • Autosomal recessive nonsyndromic hearing loss 81 test
  • Autosomal recessive nonsyndromic hearing loss 84B1 test
  • Autosomal recessive nonsyndromic hearing loss 861 test
  • Autosomal recessive nonsyndromic hearing loss 881 test
  • Autosomal recessive nonsyndromic hearing loss 895 tests
  • Autosomal recessive nonsyndromic hearing loss 92 tests
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Autosomal recessive nonsyndromic hearing loss 931 test
  • Autosomal recessive nonsyndromic hearing loss 971 test
  • Autosomal recessive nonsyndromic hearing loss 981 test
  • Autosomal recessive omodysplasia6 tests
  • Autosomal recessive optic atrophy, OPA7 type7 tests
  • Autosomal recessive osteopetrosis 17 tests
  • Autosomal recessive osteopetrosis 24 tests
  • Autosomal recessive osteopetrosis 54 tests
  • Autosomal recessive osteopetrosis 62 tests
  • Autosomal recessive osteopetrosis 85 tests
  • Autosomal recessive Parkinson disease 141 test
  • Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity2 tests
  • Autosomal recessive proximal renal tubular acidosis5 tests
  • Autosomal recessive pseudohypoaldosteronism type 13 tests
  • Autosomal recessive Robinow syndrome8 tests
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency3 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency4 tests
  • Autosomal recessive spastic paraplegia type 765 tests
  • Autosomal recessive spastic paraplegia type 781 test
  • Autosomal recessive spinocerebellar ataxia 104 tests
  • Autosomal recessive spinocerebellar ataxia 127 tests
  • Autosomal recessive spinocerebellar ataxia 134 tests
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 154 tests
  • Autosomal recessive spinocerebellar ataxia 163 tests
  • Autosomal recessive spinocerebellar ataxia 174 tests
  • Autosomal recessive spinocerebellar ataxia 185 tests
  • Autosomal recessive spinocerebellar ataxia 25 tests
  • Autosomal recessive spinocerebellar ataxia 204 tests
  • Autosomal recessive spinocerebellar ataxia 79 tests
  • Autosomal recessive spondylometaphyseal dysplasia, Megarbane type3 tests
  • Autosomal systemic lupus erythematosus type 162 tests
  • Avascular necrosis of femoral head, primary, 11 test
  • Avascular necrosis of femoral head, primary, 21 test
  • Axenfeld-Rieger syndrome type 16 tests
  • Axenfeld-Rieger syndrome type 36 tests
  • Ayme-Gripp syndrome3 tests
  • Azorean disease3 tests
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1 test
  • B4GALT1-congenital disorder of glycosylation5 tests
  • Bailey-Bloch congenital myopathy3 tests
  • Bamforth-Lazarus syndrome2 tests
  • Band heterotopia of brain3 tests
  • BAP1-related tumor predisposition syndrome4 tests
  • Baraitser-Winter syndrome 15 tests
  • Baraitser-winter syndrome 24 tests
  • Barber-Say syndrome1 test
  • Bardet-Biedl syndrome 113 tests
  • Bardet-Biedl syndrome 1011 tests
  • Bardet-Biedl syndrome 1111 tests
  • Bardet-Biedl syndrome 1211 tests
  • Bardet-Biedl syndrome 139 tests
  • Bardet-Biedl syndrome 146 tests
  • Bardet-Biedl syndrome 155 tests
  • Bardet-Biedl syndrome 161 test
  • Bardet-Biedl syndrome 178 tests
  • Bardet-Biedl syndrome 198 tests
  • Bardet-Biedl syndrome 23 tests
  • Bardet-Biedl syndrome 201 test
  • Bardet-biedl syndrome 216 tests
  • Bardet-Biedl syndrome 311 tests
  • Bardet-Biedl syndrome 412 tests
  • Bardet-Biedl syndrome 510 tests
  • Bardet-Biedl syndrome 613 tests
  • Bardet-Biedl syndrome 711 tests
  • Bardet-Biedl syndrome 81 test
  • Bardet-Biedl syndrome 911 tests
  • Barrett esophagus3 tests
  • Bartsocas-Papas syndrome1 test
  • Bartter disease type 14 tests
  • Bartter disease type 24 tests
  • Bartter disease type 4a7 tests
  • Bartter disease type 4B4 tests
  • Basal cell carcinoma, susceptibility to, 13 tests
  • Basal cell carcinoma, susceptibility to, 78 tests
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 52 tests
  • Basal ganglia calcification, idiopathic, 63 tests
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive3 tests
  • Basal ganglia calcification, idiopathic, 8, autosomal recessive2 tests
  • Basan syndrome1 test
  • BDV SYNDROME1 test
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Becker muscular dystrophy7 tests
  • Beckwith-Wiedemann syndrome9 tests
  • Benign concentric annular macular dystrophy2 tests
  • Benign familial hematuria6 tests
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis type 14 tests
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • BENTA disease4 tests
  • Bernard Soulier syndrome5 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • Beta-D-mannosidosis12 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency8 tests
  • Beta-thalassemia HBB/LCRB2 tests
  • Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
  • Bethlem myopathy 17 tests
  • Bethlem myopathy 25 tests
  • Bietti crystalline corneoretinal dystrophy2 tests
  • Bifunctional peroxisomal enzyme deficiency9 tests
  • Bilateral frontoparietal polymicrogyria7 tests
  • Bilateral parasagittal parieto-occipital polymicrogyria7 tests
  • Bile acid conjugation defect 12 tests
  • Bilirubin, serum level of, quantitative trait locus 17 tests
  • Biotin-responsive basal ganglia disease9 tests
  • Biotinidase deficiency10 tests
  • Birk-Barel syndrome3 tests
  • Blau syndrome1 test
  • Bleeding diathesis due to thromboxane synthesis deficiency1 test
  • Bleeding disorder, platelet-type, 213 tests
  • Bleeding disorder, platelet-type, 244 tests
  • Blepharocheilodontic syndrome 11 test
  • Blepharocheilodontic syndrome 22 tests
  • Blepharophimosis - intellectual disability syndrome, MKB type2 tests
  • Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
  • BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME4 tests
  • BLOOD GROUP, EMM SYSTEM1 test
  • Blood group, Gerbich system2 tests
  • BLOOD GROUP--DIEGO SYSTEM1 test
  • BLOOD GROUP--FROESE1 test
  • BLOOD GROUP--LUTHERAN INHIBITOR1 test
  • BLOOD GROUP--SWANN SYSTEM1 test
  • BLOOD GROUP--WALDNER TYPE1 test
  • BLOOD GROUP--WRIGHT ANTIGEN1 test
  • Bloom syndrome7 tests
  • BNAR syndrome5 tests
  • Body mass index quantitative trait locus 181 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202 tests
  • Body mass index quantitative trait locus 42 tests
  • Body mass index quantitative trait locus 91 test
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency3 tests
  • Bohring-Opitz syndrome1 test
  • Bone marrow failure syndrome 33 tests
  • Bone marrow failure syndrome 42 tests
  • Bone marrow failure syndrome 58 tests
  • Bone marrow failure syndrome 61 test
  • Bone mineral density quantitative trait locus 182 tests
  • Bone osteosarcoma11 tests
  • Boomerang dysplasia1 test
  • Borjeson-Forssman-Lehmann syndrome9 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome6 tests
  • Bothnia retinal dystrophy6 tests
  • Brachydactyly type A1A1 test
  • Brachydactyly type A1C1 test
  • Brachydactyly type A1D5 tests
  • Brachydactyly type A24 tests
  • Brachydactyly type B11 test
  • Brachydactyly type B21 test
  • Brachydactyly type C1 test
  • Brachydactyly type E13 tests
  • Brachydactyly type E24 tests
  • Brachyolmia-amelogenesis imperfecta syndrome2 tests
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia3 tests
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis2 tests
  • Brain small vessel disease 1 with or without ocular anomalies14 tests
  • Brain small vessel disease 34 tests
  • Brain-lung-thyroid syndrome3 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency5 tests
  • Branchiogenic deafness syndrome1 test
  • Branchiooculofacial syndrome6 tests
  • Branchiootic syndrome 16 tests
  • Branchiootic syndrome 34 tests
  • Branchiootorenal syndrome 11 test
  • Branchiootorenal syndrome 24 tests
  • Breast-ovarian cancer, familial, susceptibility to, 112 tests
  • Breast-ovarian cancer, familial, susceptibility to, 212 tests
  • Breast-ovarian cancer, familial, susceptibility to, 37 tests
  • Breast-ovarian cancer, familial, susceptibility to, 44 tests
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Brittle cornea syndrome 13 tests
  • Brittle cornea syndrome 23 tests
  • Brody myopathy3 tests
  • Bronchiectasis with or without elevated sweat chloride 13 tests
  • Bronchiectasis with or without elevated sweat chloride 24 tests
  • Bronchiectasis with or without elevated sweat chloride 34 tests
  • Brooke-Spiegler syndrome3 tests
  • Brown-Vialetto-van Laere syndrome 18 tests
  • Brown-Vialetto-van Laere syndrome 28 tests
  • Bruck syndrome 18 tests
  • Bruck syndrome 27 tests
  • Brugada syndrome1 test
  • Brugada syndrome 11 test
  • Brugada syndrome 22 tests
  • Brugada syndrome 31 test
  • Brugada syndrome 45 tests
  • Brugada syndrome 64 tests
  • Brugada syndrome 72 tests
  • Brugada syndrome 81 test
  • Brugada syndrome 91 test
  • Brunner syndrome4 tests
  • Bryant-Li-Bhoj neurodevelopmental syndrome 11 test
  • Budd-Chiari syndrome3 tests
  • Bullous ichthyosiform erythroderma2 tests
  • Burkitt lymphoma1 test
  • C syndrome3 tests
  • C1 inhibitor deficiency2 tests
  • C1Q deficiency4 tests
  • C3 glomerulonephritis1 test
  • Café-au-lait macules with pulmonary stenosis2 tests
  • Calvarial doughnut lesions-bone fragility syndrome2 tests
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
  • Camptomelic dysplasia7 tests
  • Cancer of cervix2 tests
  • CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA3 tests
  • Candidiasis, familial, 92 tests
  • Capillary infantile hemangioma2 tests
  • Capillary malformation-arteriovenous malformation 14 tests
  • Capillary malformation-arteriovenous malformation 21 test
  • Carcinoma of pancreas8 tests
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome5 tests
  • Cardiac arrhythmia, ankyrin-B-related4 tests
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies5 tests
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardiac, facial, and digital anomalies with developmental delay3 tests
  • Cardiac-urogenital syndrome2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 110 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 29 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 34 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 45 tests
  • Cardiofaciocutaneous syndrome 23 tests
  • Cardiofaciocutaneous syndrome 32 tests
  • Cardiofaciocutaneous syndrome 47 tests
  • Cardiomyopathy, dilated, 2E1 test
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis4 tests
  • Cardiomyopathy, familial hypertrophic 271 test
  • Cardiomyopathy, familial restrictive, 11 test
  • Cardiomyopathy, familial restrictive, 31 test
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome7 tests
  • Cardiospondylocarpofacial syndrome1 test
  • Carney complex - trismus - pseudocamptodactyly syndrome4 tests
  • Carney complex, type 12 tests
  • Carney-Stratakis syndrome5 tests
  • Carnitine acylcarnitine translocase deficiency7 tests
  • Carnitine palmitoyl transferase 1A deficiency8 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form1 test
  • Carnitine palmitoyl transferase II deficiency, neonatal form10 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
  • Carotid intimal medial thickness 11 test
  • Carpal tunnel syndrome 11 test
  • Carpal tunnel syndrome 21 test
  • Cataract 1 multiple types2 tests
  • Cataract 10 multiple types2 tests
  • Cataract 11 multiple types2 tests
  • Cataract 12 multiple types2 tests
  • Cataract 13 with adult I phenotype1 test
  • Cataract 14 multiple types2 tests
  • Cataract 15 multiple types2 tests
  • Cataract 16 multiple types1 test
  • Cataract 17 multiple types2 tests
  • Cataract 182 tests
  • Cataract 19 multiple types3 tests
  • Cataract 2, multiple types2 tests
  • Cataract 20 multiple types2 tests
  • Cataract 21 multiple types1 test
  • Cataract 22 multiple types2 tests
  • Cataract 232 tests
  • Cataract 3 multiple types1 test
  • Cataract 302 tests
  • Cataract 31 multiple types2 tests
  • Cataract 331 test
  • Cataract 362 tests
  • Cataract 386 tests
  • Cataract 39 multiple types2 tests
  • Cataract 4 multiple types2 tests
  • Cataract 401 test
  • Cataract 411 test
  • Cataract 441 test
  • Cataract 46 juvenile-onset1 test
  • Cataract 5 multiple types2 tests
  • Cataract 6 multiple types2 tests
  • Cataract 9 multiple types2 tests
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome7 tests
  • Catecholaminergic polymorphic ventricular tachycardia 11 test
  • Catecholaminergic polymorphic ventricular tachycardia 22 tests
  • Catecholaminergic polymorphic ventricular tachycardia 32 tests
  • Catecholaminergic polymorphic ventricular tachycardia 42 tests
  • Catecholaminergic polymorphic ventricular tachycardia 52 tests
  • Catel-Manzke syndrome2 tests
  • Cayman type cerebellar ataxia4 tests
  • CBL-related disorder3 tests
  • CCDC115-CDG3 tests
  • CEDNIK syndrome8 tests
  • Celiac disease, susceptibility to, 31 test
  • Celiac disease, susceptibility to, 42 tests
  • Cenani-Lenz syndactyly syndrome1 test
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease14 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 16 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 26 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 35 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 45 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome7 tests
  • Cerebellar ataxia-hypogonadism syndrome8 tests
  • Cerebellar atrophy with seizures and variable developmental delay2 tests
  • Cerebellar atrophy, developmental delay, and seizures4 tests
  • Cerebral amyloid angiopathy, APP-related6 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 12 tests
  • Cerebral cavernous malformation4 tests
  • Cerebral cavernous malformation 23 tests
  • Cerebral cavernous malformation 35 tests
  • Cerebral cavernous malformations 41 test
  • Cerebral folate transport deficiency5 tests
  • Cerebral palsy, spastic quadriplegic, 23 tests
  • Cerebrofaciothoracic dysplasia5 tests
  • Cerebrooculofacioskeletal syndrome 17 tests
  • Cerebrooculofacioskeletal syndrome 21 test
  • Cerebrooculofacioskeletal syndrome 31 test
  • Cerebrooculofacioskeletal syndrome 44 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 110 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 22 tests
  • Cernunnos-XLF deficiency7 tests
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)9 tests
  • Ceroid lipofuscinosis, neuronal, 6A9 tests
  • Ceroid lipofuscinosis, neuronal, 6B (Kufs type)7 tests
  • CFHR5 deficiency2 tests
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
  • Char syndrome3 tests
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease axonal type 2F3 tests
  • Charcot-Marie-Tooth disease axonal type 2K1 test
  • Charcot-Marie-Tooth disease axonal type 2L3 tests
  • Charcot-Marie-Tooth disease axonal type 2N1 test
  • Charcot-Marie-Tooth disease axonal type 2O1 test
  • Charcot-Marie-Tooth disease axonal type 2P3 tests
  • Charcot-Marie-Tooth disease axonal type 2Q4 tests
  • Charcot-Marie-Tooth disease axonal type 2S4 tests
  • Charcot-Marie-Tooth disease axonal type 2U1 test
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease axonal type 2X10 tests
  • Charcot-Marie-Tooth disease dominant intermediate B1 test
  • Charcot-Marie-Tooth disease dominant intermediate C1 test
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease dominant intermediate E6 tests
  • Charcot-Marie-Tooth disease dominant intermediate F3 tests
  • Charcot-Marie-Tooth disease recessive intermediate A5 tests
  • Charcot-Marie-Tooth disease recessive intermediate B1 test
  • Charcot-Marie-Tooth disease recessive intermediate C1 test
  • Charcot-Marie-Tooth disease recessive intermediate D6 tests
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 1C4 tests
  • Charcot-Marie-Tooth disease type 1D5 tests
  • Charcot-Marie-Tooth disease type 1E2 tests
  • Charcot-Marie-Tooth disease type 2A11 test
  • Charcot-Marie-Tooth disease type 2A29 tests
  • Charcot-Marie-Tooth disease type 2B3 tests
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2B27 tests
  • Charcot-Marie-Tooth disease type 2D1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2R3 tests
  • Charcot-Marie-Tooth disease type 2Y1 test
  • Charcot-Marie-Tooth disease type 4A1 test
  • Charcot-Marie-Tooth disease type 4B13 tests
  • Charcot-Marie-Tooth disease type 4B24 tests
  • Charcot-Marie-Tooth disease type 4B34 tests
  • Charcot-Marie-Tooth disease type 4C3 tests
  • Charcot-Marie-Tooth disease type 4D3 tests
  • Charcot-Marie-Tooth disease type 4E1 test
  • Charcot-Marie-Tooth disease type 4F3 tests
  • Charcot-Marie-Tooth disease type 4G2 tests
  • Charcot-Marie-Tooth disease type 4H3 tests
  • Charcot-Marie-Tooth disease type 4J1 test
  • Charcot-Marie-Tooth disease type 4K3 tests
  • Charcot-Marie-Tooth disease X-linked dominant 18 tests
  • Charcot-Marie-Tooth disease X-linked dominant 64 tests
  • Charcot-Marie-Tooth disease X-linked recessive 41 test
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
  • Charcot-marie-tooth disease, axonal, type 2DD3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2EE1 test
  • Charcot-Marie-Tooth disease, axonal, Type 2HH1 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, demyelinating, IIA 1H1 test
  • Charcot-Marie-Tooth disease, demyelinating, IIA 1I10 tests
  • Charcot-Marie-Tooth disease, type IA7 tests
  • CHARGE association5 tests
  • Charlevoix-Saguenay spastic ataxia7 tests
  • Chilblain lupus 11 test
  • Chilblain lupus 21 test
  • Child syndrome8 tests
  • Childhood apraxia of speech3 tests
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency8 tests
  • Childhood hypophosphatasia1 test
  • Childhood onset GLUT1 deficiency syndrome 22 tests
  • Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder4 tests
  • CHIME syndrome3 tests
  • Chitayat syndrome1 test
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
  • Cholestanol storage disease13 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, intrahepatic, of pregnancy, 35 tests
  • Cholestasis, progressive familial intrahepatic, 121 test
  • Cholestasis, progressive familial intrahepatic, 45 tests
  • Cholestasis, progressive familial intrahepatic, 53 tests
  • Cholestasis-pigmentary retinopathy-cleft palate syndrome9 tests
  • Chondrocalcinosis 22 tests
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 2 X-linked dominant6 tests
  • Chondrosarcoma2 tests
  • Chorea-acanthocytosis4 tests
  • Choroid plexus papilloma8 tests
  • Choroidal dystrophy, central areolar 21 test
  • Choroidal dystrophy, central areolar, 15 tests
  • Choroideremia4 tests
  • Christianson syndrome9 tests
  • Chromosome 15q13.3 microdeletion syndrome2 tests
  • Chromosome 1p32-p31 deletion syndrome3 tests
  • Chromosome 2P16.3 deletion syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome5 tests
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic myelogenous leukemia, BCR-ABL1 positive3 tests
  • Chronic myelomonocytic leukemia1 test
  • Chudley-McCullough syndrome3 tests
  • Chuvash polycythemia6 tests
  • Chédiak-Higashi syndrome13 tests
  • Ciliary dyskinesia, primary, 36, X-linked3 tests
  • Ciliary dyskinesia, primary, 373 tests
  • Ciliary dyskinesia, primary, 384 tests
  • Ciliary dyskinesia, primary, 393 tests
  • Ciliary dyskinesia, primary, 404 tests
  • Ciliary dyskinesia, primary, 421 test
  • Ciliary dyskinesia, primary, 432 tests
  • Ciliary dyskinesia, primary, 445 tests
  • Ciliary dyskinesia, primary, 453 tests
  • Cirrhosis, familial3 tests
  • Citrullinemia type I6 tests
  • Citrullinemia, type II, adult-onset10 tests
  • CK syndrome1 test
  • CLAPO syndrome1 test
  • Clark-Baraitser syndrome3 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency6 tests
  • Classic homocystinuria10 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome5 tests
  • Cleft palate with or without ankyloglossia, X-linked2 tests
  • Cleidocranial dysostosis3 tests
  • CLOVES syndrome1 test
  • Clubfoot2 tests
  • COACH syndrome 11 test
  • COACH syndrome 211 tests
  • Cobalamin C disease10 tests
  • Cobblestone lissencephaly without muscular or ocular involvement6 tests
  • Cockayne syndrome type 11 test
  • Cockayne syndrome type 21 test
  • CODAS syndrome3 tests
  • Coenzyme Q10 deficiency, primary, 14 tests
  • Coenzyme Q10 deficiency, primary, 39 tests
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome 13 tests
  • Coffin-Siris syndrome 51 test
  • Coffin-Siris syndrome 63 tests
  • Coffin-Siris syndrome 74 tests
  • Coffin-Siris syndrome 84 tests
  • COG1 congenital disorder of glycosylation6 tests
  • COG4-congenital disorder of glycosylation1 test
  • COG5-congenital disorder of glycosylation6 tests
  • COG6-ongenital disorder of glycosylation6 tests
  • COG7 congenital disorder of glycosylation6 tests
  • COG8-congenital disorder of glycosylation5 tests
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome5 tests
  • Cognitive impairment with or without cerebellar ataxia1 test
  • Cohen syndrome8 tests
  • Colchicine resistance1 test
  • Cold-induced sweating syndrome 12 tests
  • Cole-Carpenter syndrome 15 tests
  • Cole-Carpenter syndrome 23 tests
  • Coloboma of optic nerve1 test
  • Coloboma, ocular, autosomal dominant1 test
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness7 tests
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome3 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome3 tests
  • Colorectal cancer23 tests
  • Colorectal cancer, hereditary nonpolyposis, type 29 tests
  • Colorectal cancer, hereditary nonpolyposis, type 47 tests
  • Colorectal cancer, hereditary nonpolyposis, type 57 tests
  • Colorectal cancer, hereditary nonpolyposis, type 64 tests
  • Colorectal cancer, hereditary nonpolyposis, type 74 tests
  • Colorectal cancer, hereditary nonpolyposis, type 84 tests
  • Colorectal cancer, susceptibility to, 13 tests
  • Colorectal cancer, susceptibility to, 104 tests
  • Colorectal cancer, susceptibility to, 125 tests
  • Colton Blood group system2 tests
  • Combined deficiency of sialidase AND beta galactosidase6 tests
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
  • Combined immunodeficiency due to CD3gamma deficiency3 tests
  • Combined immunodeficiency due to DOCK8 deficiency7 tests
  • Combined immunodeficiency due to GINS1 deficiency2 tests
  • Combined immunodeficiency due to LRBA deficiency6 tests
  • Combined immunodeficiency due to MALT1 deficiency3 tests
  • Combined immunodeficiency due to moesin deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency7 tests
  • Combined immunodeficiency due to STK4 deficiency2 tests
  • Combined immunodeficiency due to ZAP70 deficiency3 tests
  • Combined immunodeficiency with faciooculoskeletal anomalies1 test
  • Combined immunodeficiency with skin granulomas5 tests
  • Combined immunodeficiency, X-linked6 tests
  • Combined malonic and methylmalonic acidemia6 tests
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
  • Combined oxidative phosphorylation defect type 118 tests
  • Combined oxidative phosphorylation defect type 139 tests
  • Combined oxidative phosphorylation defect type 141 test
  • Combined oxidative phosphorylation defect type 151 test
  • Combined oxidative phosphorylation defect type 177 tests
  • Combined oxidative phosphorylation defect type 25 tests
  • Combined oxidative phosphorylation defect type 206 tests
  • Combined oxidative phosphorylation defect type 214 tests
  • Combined oxidative phosphorylation defect type 237 tests
  • Combined oxidative phosphorylation defect type 249 tests
  • Combined oxidative phosphorylation defect type 257 tests
  • Combined oxidative phosphorylation defect type 262 tests
  • Combined oxidative phosphorylation defect type 275 tests
  • Combined oxidative phosphorylation defect type 305 tests
  • Combined oxidative phosphorylation defect type 47 tests
  • Combined oxidative phosphorylation defect type 76 tests
  • Combined oxidative phosphorylation defect type 81 test
  • Combined oxidative phosphorylation defect type 96 tests
  • Combined oxidative phosphorylation deficiency 223 tests
  • Combined oxidative phosphorylation deficiency 286 tests
  • Combined oxidative phosphorylation deficiency 322 tests
  • Combined oxidative phosphorylation deficiency 332 tests
  • Combined oxidative phosphorylation deficiency 355 tests
  • Combined oxidative phosphorylation deficiency 362 tests
  • Combined oxidative phosphorylation deficiency 397 tests
  • Combined oxidative phosphorylation deficiency 448 tests
  • Combined pituitary hormone deficiencies, genetic form1 test
  • Complement component 2 deficiency1 test
  • Complement component 3 deficiency1 test
  • Complement component 5 deficiency1 test
  • Complement component 6 deficiency2 tests
  • Complement component 7 deficiency2 tests
  • Complement component 9 deficiency2 tests
  • Complement component C1s deficiency1 test
  • Complement factor b deficiency1 test
  • Complete trisomy 21 syndrome5 tests
  • Complex cortical dysplasia with other brain malformations 24 tests
  • Complex cortical dysplasia with other brain malformations 33 tests
  • Complex cortical dysplasia with other brain malformations 43 tests
  • Complex cortical dysplasia with other brain malformations 54 tests
  • Complex cortical dysplasia with other brain malformations 62 tests
  • Complex cortical dysplasia with other brain malformations 74 tests
  • Complex lethal osteochondrodysplasia1 test
  • Compton-North congenital myopathy2 tests
  • Cone dystrophy 32 tests
  • Cone dystrophy 42 tests
  • Cone dystrophy with supernormal rod response2 tests
  • Cone monochromatism1 test
  • Cone-rod dystrophy 102 tests
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 161 test
  • Cone-rod dystrophy 182 tests
  • Cone-rod dystrophy 192 tests
  • Cone-rod dystrophy 25 tests
  • Cone-rod dystrophy 202 tests
  • Cone-rod dystrophy 212 tests
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 53 tests
  • Cone-rod dystrophy 61 test
  • Cone-rod dystrophy 74 tests
  • Cone-rod dystrophy 92 tests
  • Cone-rod dystrophy and hearing loss 11 test
  • Cone-rod synaptic disorder, congenital nonprogressive5 tests
  • Congenital absence of salivary gland1 test
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency5 tests
  • Congenital afibrinogenemia6 tests
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital anomalies of kidney and urinary tract 17 tests
  • Congenital anomalies of kidney and urinary tract 23 tests
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay4 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
  • Congenital bile acid synthesis defect 15 tests
  • Congenital bile acid synthesis defect 24 tests
  • Congenital bile acid synthesis defect 39 tests
  • Congenital bile acid synthesis defect 55 tests
  • Congenital brain dysgenesis due to glutamine synthetase deficiency4 tests
  • Congenital cataract-hearing loss-severe developmental delay syndrome6 tests
  • Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3 tests
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome6 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome3 tests
  • Congenital contractural arachnodactyly1 test
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital diarrhea 5 with tufting enteropathy7 tests
  • Congenital diarrhea 62 tests
  • Congenital disorder of deglycosylation 17 tests
  • Congenital disorder of glycosylation type 1E6 tests
  • Congenital disorder of glycosylation type Ir4 tests
  • Congenital disorder of glycosylation with defective fucosylation 13 tests
  • Congenital disorder of glycosylation, type IAA2 tests
  • Congenital disorder of glycosylation, type ICC1 test
  • Congenital disorder of glycosylation, type IIr4 tests
  • Congenital disorder of glycosylation, type IIw1 test
  • Congenital disorder of glycosylation, type Iw, autosomal dominant1 test
  • Congenital dyserythropoietic anemia type 41 test
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital factor VII deficiency3 tests
  • Congenital fibrosis of extraocular muscles type 12 tests
  • Congenital generalized lipodystrophy type 13 tests
  • Congenital generalized lipodystrophy type 21 test
  • Congenital generalized lipodystrophy type 37 tests
  • Congenital generalized lipodystrophy type 45 tests
  • Congenital glucose-galactose malabsorption2 tests
  • Congenital heart defects and skeletal malformations syndrome1 test
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
  • Congenital heart defects, multiple types, 22 tests
  • Congenital heart defects, multiple types, 43 tests
  • Congenital heart defects, multiple types, 52 tests
  • Congenital heart defects, multiple types, 62 tests
  • CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY2 tests
  • Congenital hereditary endothelial dystrophy of cornea1 test
  • Congenital hyperammonemia, type I1 test
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies5 tests
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
  • Congenital isolated adrenocorticotropic hormone deficiency2 tests
  • Congenital lactase deficiency4 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type9 tests
  • Congenital lipoid adrenal hyperplasia due to STAR deficency7 tests
  • Congenital macrodactylia1 test
  • Congenital malabsorptive diarrhea 46 tests
  • Congenital mesoblastic nephroma1 test
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome4 tests
  • Congenital microvillous atrophy2 tests
  • Congenital multicore myopathy with external ophthalmoplegia5 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency5 tests
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy7 tests
  • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4 tests
  • Congenital muscular hypertrophy-cerebral syndrome6 tests
  • Congenital myasthenic syndrome 106 tests
  • Congenital myasthenic syndrome 117 tests
  • Congenital myasthenic syndrome 128 tests
  • Congenital myasthenic syndrome 131 test
  • Congenital myasthenic syndrome 146 tests
  • Congenital myasthenic syndrome 151 test
  • Congenital myasthenic syndrome 161 test
  • Congenital myasthenic syndrome 171 test
  • Congenital myasthenic syndrome 183 tests
  • Congenital myasthenic syndrome 193 tests
  • Congenital myasthenic syndrome 1A1 test
  • Congenital myasthenic syndrome 204 tests
  • Congenital myasthenic syndrome 214 tests
  • Congenital myasthenic syndrome 2A1 test
  • Congenital myasthenic syndrome 2C6 tests
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 3C5 tests
  • Congenital myasthenic syndrome 4A1 test
  • Congenital myasthenic syndrome 4B7 tests
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myasthenic syndrome 56 tests
  • Congenital myasthenic syndrome 74 tests
  • Congenital myasthenic syndrome 84 tests
  • Congenital myasthenic syndrome 91 test
  • Congenital myopathy with fiber type disproportion6 tests
  • Congenital myopathy with internal nuclei and atypical cores4 tests
  • Congenital myopathy with reduced type 2 muscle fibers3 tests
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form4 tests
  • Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome6 tests
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome3 tests
  • Congenital nongoitrous hypothryoidism 65 tests
  • Congenital nonprogressive myopathy with Moebius and Robin sequences3 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency2 tests
  • Congenital prothrombin deficiency1 test
  • Congenital reticular ichthyosiform erythroderma1 test
  • Congenital secretory diarrhea, chloride type4 tests
  • Congenital secretory sodium diarrhea 34 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers3 tests
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome8 tests
  • Congenital stationary night blindness 1C3 tests
  • Congenital stationary night blindness 2A1 test
  • Congenital stationary night blindness autosomal dominant 17 tests
  • Congenital stationary night blindness autosomal dominant 22 tests
  • Congenital vertical talus3 tests
  • Conotruncal heart malformations9 tests
  • Constitutional megaloblastic anemia with severe neurologic disease2 tests
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
  • Contractures, pterygia, and variable skeletal fusions syndrome 1B1 test
  • COPD, severe early onset3 tests
  • Corneal dystrophy, Fuchs endothelial, 32 tests
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy-perceptive deafness syndrome2 tests
  • Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
  • Cornelia de Lange syndrome 18 tests
  • Cornelia de Lange syndrome 36 tests
  • Cornelia de Lange syndrome 44 tests
  • Cornelia de Lange syndrome 54 tests
  • Coronary heart disease, susceptibility to, 11 test
  • Coronary heart disease, susceptibility to, 61 test
  • Coronary heart disease, susceptibility to, 71 test
  • Corpus callosum agenesis-abnormal genitalia syndrome7 tests
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome3 tests
  • Cortical dysplasia, complex, with other brain malformations 94 tests
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Corticosterone 18-monooxygenase deficiency6 tests
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Cortisone reductase deficiency 12 tests
  • Cortisone reductase deficiency 24 tests
  • Costello syndrome13 tests
  • Cowden syndrome 17 tests
  • Cowden syndrome 53 tests
  • Cowden syndrome 63 tests
  • Cowden syndrome 74 tests
  • Craniodiaphyseal dysplasia, autosomal dominant1 test
  • Cranioectodermal dysplasia 13 tests
  • Cranioectodermal dysplasia 21 test
  • Cranioectodermal dysplasia 31 test
  • Cranioectodermal dysplasia 41 test
  • Craniofacial dysplasia - osteopenia syndrome2 tests
  • Craniofacial-deafness-hand syndrome1 test
  • Craniofrontonasal syndrome3 tests
  • Craniometaphyseal dysplasia, autosomal dominant6 tests
  • Craniosynostosis 22 tests
  • Craniosynostosis 41 test
  • Craniosynostosis 5, susceptibility to1 test
  • Craniosynostosis 64 tests
  • Craniosynostosis and dental anomalies2 tests
  • Creatine transporter deficiency7 tests
  • Crigler-Najjar syndrome type 11 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome1 test
  • Crouzon syndrome-acanthosis nigricans syndrome1 test
  • Cryohydrocytosis1 test
  • Cryptorchidism1 test
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome2 tests
  • Curly hair, ankyloblepharon, nail dysplasia syndrome3 tests
  • Currarino triad1 test
  • Curry-Hall syndrome7 tests
  • Curry-Jones syndrome1 test
  • Cutaneous mastocytosis9 tests
  • Cutaneous porphyria5 tests
  • Cutis laxa with osteodystrophy1 test
  • Cutis laxa, autosomal dominant 11 test
  • Cutis laxa, autosomal dominant 27 tests
  • Cutis laxa, autosomal dominant 31 test
  • Cutis laxa, autosomal recessive, type 1A1 test
  • Cutis laxa, autosomal recessive, type 1B7 tests
  • Cutis laxa, X-linked1 test
  • Cyclical neutropenia1 test
  • CYP2C19-related poor drug metabolism1 test
  • Cystathioninuria2 tests
  • Cystic fibrosis11 tests
  • Cystic leukoencephalopathy without megalencephaly5 tests
  • Cystinuria7 tests
  • Cytochrome-c oxidase deficiency disease6 tests
  • Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder2 tests
  • Czech dysplasia, metatarsal type1 test
  • D,L-2-hydroxyglutaric aciduria5 tests
  • D-2-hydroxyglutaric aciduria 16 tests
  • D-2-hydroxyglutaric aciduria 22 tests
  • D-Glyceric aciduria4 tests
  • Danon disease13 tests
  • DDX41-related hematologic malignancy predisposition syndrome1 test
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness dystonia syndrome8 tests
  • Deafness with labyrinthine aplasia, microtia, and microdontia1 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness, autosomal dominant 821 test
  • Deafness, congenital heart defects, and posterior embryotoxon1 test
  • Deafness, X-linked 51 test
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome6 tests
  • Deafness-lymphedema-leukemia syndrome4 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase6 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
  • Deficiency of acetyl-CoA acetyltransferase8 tests
  • Deficiency of alpha-mannosidase7 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase6 tests
  • Deficiency of beta-ureidopropionase4 tests
  • Deficiency of butyryl-CoA dehydrogenase7 tests
  • Deficiency of butyrylcholinesterase1 test
  • Deficiency of cytochrome-b5 reductase4 tests
  • Deficiency of ferroxidase8 tests
  • Deficiency of galactokinase6 tests
  • Deficiency of glycerol kinase6 tests
  • Deficiency of guanidinoacetate methyltransferase9 tests
  • Deficiency of hyaluronoglucosaminidase4 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase10 tests
  • Deficiency of iodide peroxidase4 tests
  • Deficiency of isobutyryl-CoA dehydrogenase5 tests
  • Deficiency of malonyl-CoA decarboxylase4 tests
  • Deficiency of phosphoserine phosphatase3 tests
  • Deficiency of pyrroline-5-carboxylate reductase6 tests
  • Deficiency of ribose-5-phosphate isomerase5 tests
  • Deficiency of steroid 11-beta-monooxygenase9 tests
  • Deficiency of steroid 17-alpha-monooxygenase7 tests
  • Deficiency of transaldolase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase9 tests
  • DEGCAGS SYNDROME3 tests
  • Dehydrated hereditary stomatocytosis 22 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
  • Dejerine-Sottas disease5 tests
  • Delta-beta-thalassemia2 tests
  • Dent disease type 11 test
  • Dent disease type 211 tests
  • Dentatorubral-pallidoluysian atrophy2 tests
  • Denticles1 test
  • Dentinogenesis imperfecta type 23 tests
  • Dentinogenesis imperfecta type 31 test
  • Dermatofibrosis lenticularis disseminata2 tests
  • DeSanto-Shinawi syndrome due to WAC point mutation3 tests
  • Desbuquois dysplasia 11 test
  • Desmin-related myofibrillar myopathy1 test
  • Desmoid disease, hereditary6 tests
  • Desmosterolosis7 tests
  • Developmental and epileptic encephalopathy 1014 tests
  • Developmental and epileptic encephalopathy 6B2 tests
  • Developmental and epileptic encephalopathy 896 tests
  • Developmental and epileptic encephalopathy 945 tests
  • Developmental and epileptic encephalopathy 981 test
  • Developmental and epileptic encephalopathy 991 test
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 111 test
  • Developmental and epileptic encephalopathy, 124 tests
  • Developmental and epileptic encephalopathy, 131 test
  • Developmental and epileptic encephalopathy, 141 test
  • Developmental and epileptic encephalopathy, 151 test
  • Developmental and epileptic encephalopathy, 161 test
  • Developmental and epileptic encephalopathy, 171 test
  • Developmental and epileptic encephalopathy, 183 tests
  • Developmental and epileptic encephalopathy, 191 test
  • Developmental and epileptic encephalopathy, 25 tests
  • Developmental and epileptic encephalopathy, 212 tests
  • Developmental and epileptic encephalopathy, 234 tests
  • Developmental and epileptic encephalopathy, 244 tests
  • Developmental and epileptic encephalopathy, 253 tests
  • Developmental and epileptic encephalopathy, 264 tests
  • Developmental and epileptic encephalopathy, 274 tests
  • Developmental and epileptic encephalopathy, 282 tests
  • Developmental and epileptic encephalopathy, 291 test
  • Developmental and epileptic encephalopathy, 35 tests
  • Developmental and epileptic encephalopathy, 303 tests
  • Developmental and epileptic encephalopathy, 313 tests
  • Developmental and epileptic encephalopathy, 325 tests
  • Developmental and epileptic encephalopathy, 335 tests
  • Developmental and epileptic encephalopathy, 344 tests
  • Developmental and epileptic encephalopathy, 351 test
  • Developmental and epileptic encephalopathy, 366 tests
  • Developmental and epileptic encephalopathy, 372 tests
  • Developmental and epileptic encephalopathy, 383 tests
  • Developmental and epileptic encephalopathy, 397 tests
  • Developmental and epileptic encephalopathy, 46 tests
  • Developmental and epileptic encephalopathy, 403 tests
  • Developmental and epileptic encephalopathy, 413 tests
  • Developmental and epileptic encephalopathy, 428 tests
  • Developmental and epileptic encephalopathy, 434 tests
  • Developmental and epileptic encephalopathy, 443 tests
  • Developmental and epileptic encephalopathy, 453 tests
  • Developmental and epileptic encephalopathy, 462 tests
  • Developmental and epileptic encephalopathy, 473 tests
  • Developmental and epileptic encephalopathy, 482 tests
  • Developmental and epileptic encephalopathy, 493 tests
  • Developmental and epileptic encephalopathy, 54 tests
  • Developmental and epileptic encephalopathy, 501 test
  • Developmental and epileptic encephalopathy, 513 tests
  • Developmental and epileptic encephalopathy, 523 tests
  • Developmental and epileptic encephalopathy, 531 test
  • Developmental and epileptic encephalopathy, 544 tests
  • Developmental and epileptic encephalopathy, 553 tests
  • Developmental and epileptic encephalopathy, 563 tests
  • Developmental and epileptic encephalopathy, 573 tests
  • Developmental and epileptic encephalopathy, 581 test
  • Developmental and epileptic encephalopathy, 593 tests
  • Developmental and epileptic encephalopathy, 603 tests
  • Developmental and epileptic encephalopathy, 613 tests
  • Developmental and epileptic encephalopathy, 623 tests
  • Developmental and epileptic encephalopathy, 633 tests
  • Developmental and epileptic encephalopathy, 643 tests
  • Developmental and epileptic encephalopathy, 653 tests
  • Developmental and epileptic encephalopathy, 662 tests
  • Developmental and epileptic encephalopathy, 673 tests
  • Developmental and epileptic encephalopathy, 683 tests
  • Developmental and epileptic encephalopathy, 694 tests
  • Developmental and epileptic encephalopathy, 71 test
  • Developmental and epileptic encephalopathy, 703 tests
  • Developmental and epileptic encephalopathy, 722 tests
  • Developmental and epileptic encephalopathy, 733 tests
  • Developmental and epileptic encephalopathy, 741 test
  • Developmental and epileptic encephalopathy, 756 tests
  • Developmental and epileptic encephalopathy, 761 test
  • Developmental and epileptic encephalopathy, 773 tests
  • Developmental and epileptic encephalopathy, 783 tests
  • Developmental and epileptic encephalopathy, 793 tests
  • Developmental and epileptic encephalopathy, 85 tests
  • Developmental and epileptic encephalopathy, 803 tests
  • Developmental and epileptic encephalopathy, 811 test
  • Developmental and epileptic encephalopathy, 823 tests
  • Developmental and epileptic encephalopathy, 833 tests
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
  • Developmental and epileptic encephalopathy, 95 tests
  • Developmental delay and seizures with or without movement abnormalities1 test
  • Developmental delay with autism spectrum disorder and gait instability3 tests
  • Developmental delay with or without dysmorphic facies and autism1 test
  • DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES3 tests
  • Developmental delay with variable intellectual impairment and behavioral abnormalities3 tests
  • Developmental delay, hypotonia, and impaired language1 test
  • DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES1 test
  • Developmental malformations-deafness-dystonia syndrome1 test
  • Diabetes insipidus, nephrogenic, autosomal3 tests
  • Diabetes insipidus, nephrogenic, X-linked5 tests
  • Diabetes mellitus type 11 test
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, permanent neonatal 22 tests
  • Diabetes mellitus, permanent neonatal 39 tests
  • Diabetes mellitus, permanent neonatal 44 tests
  • Diabetes mellitus, transient neonatal, 14 tests
  • Diabetes mellitus, transient neonatal, 22 tests
  • Diabetes mellitus, transient neonatal, 32 tests
  • Diamond-Blackfan anemia 13 tests
  • Diamond-Blackfan anemia 102 tests
  • Diamond-Blackfan anemia 121 test
  • Diamond-Blackfan anemia 131 test
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 54 tests
  • Diamond-Blackfan anemia 62 tests
  • Diamond-Blackfan anemia 72 tests
  • Diamond-Blackfan anemia 82 tests
  • Diamond-Blackfan anemia 92 tests
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia1 test
  • Diaphyseal medullary stenosis-bone malignancy syndrome2 tests
  • Dias-Logan syndrome5 tests
  • Diastrophic dysplasia1 test
  • Dicarboxylic aminoaciduria3 tests
  • Diencephalic-mesencephalic junction dysplasia syndrome 13 tests
  • Differentiated thyroid carcinoma1 test
  • Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome8 tests
  • Diffuse nonepidermolytic palmoplantar keratoderma2 tests
  • DiGeorge syndrome1 test
  • Dihydropteridine reductase deficiency6 tests
  • Dihydropyrimidinase deficiency3 tests
  • Dihydropyrimidine dehydrogenase deficiency8 tests
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1AA1 test
  • Dilated cardiomyopathy 1BB2 tests
  • Dilated cardiomyopathy 1C6 tests
  • Dilated cardiomyopathy 1CC3 tests
  • Dilated cardiomyopathy 1D1 test
  • Dilated cardiomyopathy 1DD2 tests
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1J4 tests
  • Dilated cardiomyopathy 1JJ2 tests
  • Dilated cardiomyopathy 1KK1 test
  • Dilated cardiomyopathy 1L4 tests
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1NN5 tests
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1U1 test
  • Dilated cardiomyopathy 1V5 tests
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A2 tests
  • Dilated cardiomyopathy 3B2 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Dimethylglycine dehydrogenase deficiency3 tests
  • Distal arthrogryposis type 2B14 tests
  • Distal arthrogryposis type 5D3 tests
  • Distal myopathy with anterior tibial onset1 test
  • Distal myopathy, Tateyama type4 tests
  • Dizygotic twins1 test
  • DK1-congenital disorder of glycosylation7 tests
  • DNA ligase IV deficiency4 tests
  • DOCK2 deficiency2 tests
  • Dominant beta-thalassemia2 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin1 test
  • Donnai-Barrow syndrome6 tests
  • DOORS syndrome1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency7 tests
  • Dopamine beta-hydroxylase deficiency1 test
  • Dowling-Degos disease 11 test
  • Dowling-Degos disease 41 test
  • Doyne honeycomb retinal dystrophy2 tests
  • DPAGT1-congenital disorder of glycosylation6 tests
  • DPM3-congenital disorder of glycosylation1 test
  • Drash syndrome3 tests
  • Duane retraction syndrome 21 test
  • Duane-radial ray syndrome6 tests
  • Dubin-Johnson syndrome5 tests
  • Duchenne muscular dystrophy2 tests
  • Dyggve-Melchior-Clausen syndrome2 tests
  • DYRK1A-related intellectual disability syndrome5 tests
  • Dyschromatosis universalis hereditaria 11 test
  • Dyschromatosis universalis hereditaria 31 test
  • Dyskeratosis congenita, autosomal dominant 24 tests
  • Dyskeratosis congenita, autosomal dominant 39 tests
  • Dyskeratosis congenita, autosomal dominant 64 tests
  • Dyskeratosis congenita, autosomal recessive 15 tests
  • Dyskeratosis congenita, autosomal recessive 24 tests
  • Dyskeratosis congenita, autosomal recessive 34 tests
  • Dyskeratosis congenita, autosomal recessive 56 tests
  • Dyskeratosis congenita, autosomal recessive 65 tests
  • Dyskeratosis congenita, X-linked11 tests
  • Dyskinesia with orofacial involvement, autosomal dominant2 tests
  • Dyskinesia with orofacial involvement, autosomal recessive2 tests
  • Dyskinesia, limb and orofacial, infantile-onset1 test
  • Dyslexia, susceptibility to, 11 test
  • Dystonia 121 test
  • Dystonia 163 tests
  • Dystonia 242 tests
  • Dystonia 251 test
  • Dystonia 271 test
  • Dystonia 28, childhood-onset1 test
  • Dystonia 324 tests
  • Dystonia 51 test
  • Dystonia 911 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities9 tests
  • Early-onset autosomal dominant Alzheimer disease2 tests
  • Early-onset generalized limb-onset dystonia1 test
  • Early-onset myopathy with fatal cardiomyopathy4 tests
  • Early-onset Parkinson disease 205 tests
  • Early-onset parkinsonism-intellectual disability syndrome4 tests
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2 tests
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome6 tests
  • EAST syndrome11 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 4, hair/nail type2 tests
  • Ectodermal dysplasia 7, hair/nail type1 test
  • Ectodermal dysplasia and immunodeficiency 11 test
  • Ectodermal dysplasia and immunodeficiency 22 tests
  • Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies1 test
  • Ectopia lentis 1, isolated, autosomal dominant10 tests
  • Ectopia lentis 2, isolated, autosomal recessive1 test
  • Ectopia lentis et pupillae3 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
  • Eculizumab, poor response to2 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 21 test
  • Ehlers-Danlos syndrome, cardiac valvular type1 test
  • Ehlers-Danlos syndrome, classic type, 14 tests
  • Ehlers-Danlos syndrome, classic type, 25 tests
  • Ehlers-Danlos syndrome, classic-like, 23 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type4 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type6 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 14 tests
  • Ehlers-Danlos syndrome, musculocontractural type 15 tests
  • Ehlers-Danlos syndrome, musculocontractural type 22 tests
  • Ehlers-Danlos syndrome, periodontal type 15 tests
  • Ehlers-Danlos syndrome, periodontal type 24 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 13 tests
  • Ehlers-Danlos syndrome, type 42 tests
  • Eiken syndrome1 test
  • Elevated circulating creatine kinase concentration1 test
  • Elliptocytosis 12 tests
  • Elliptocytosis 21 test
  • Elliptocytosis 34 tests
  • Ellis-van Creveld syndrome7 tests
  • Elsahy-Waters syndrome3 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant4 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant4 tests
  • Encephalitis/encephalopathy, mild, with reversible myelin vacuolization1 test
  • Encephalocraniocutaneous lipomatosis2 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 26 tests
  • Encephalopathy due to GLUT1 deficiency2 tests
  • Encephalopathy due to prosaposin deficiency1 test
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 85 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 41 test
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 18 tests
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities3 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 15 tests
  • Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome10 tests
  • Enchondromatosis2 tests
  • Endometrial carcinoma10 tests
  • Epidermal nevus12 tests
  • Epidermodysplasia verruciformis, susceptibility to, 12 tests
  • Epidermodysplasia verruciformis, susceptibility to, 21 test
  • Epidermolysis bullosa pruriginosa1 test
  • Epidermolysis bullosa simplex 1A, generalized severe1 test
  • Epidermolysis bullosa simplex 1C, localized1 test
  • Epidermolysis bullosa simplex 2A, generalized severe1 test
  • Epidermolysis bullosa simplex 2B, generalized intermediate1 test
  • Epidermolysis bullosa simplex 2C, localized1 test
  • Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive5 tests
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency5 tests
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive2 tests
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
  • Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
  • Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with nail dystrophy1 test
  • Epidermolysis bullosa simplex, Koebner type1 test
  • Epidermolysis bullosa simplex, Ogna type1 test
  • Epidermolysis bullosa, junctional 2A, intermediate6 tests
  • Epidermolysis bullosa, junctional 2B, severe1 test
  • Epidermolysis bullosa, junctional 3A, intermediate6 tests
  • Epidermolysis bullosa, junctional 3B, severe1 test
  • Epidermolysis bullosa, junctional 4, intermediate3 tests
  • Epidermolysis bullosa, junctional 5A, intermediate1 test
  • EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA3 tests
  • Epidermolytic palmoplantar keratoderma3 tests
  • Epilepsy, childhood absence, susceptibility to, 51 test
  • Epilepsy, childhood absence, susceptibility to, 63 tests
  • Epilepsy, early-onset, vitamin B6-dependent3 tests
  • Epilepsy, early-onset, with or without developmental delay3 tests
  • Epilepsy, familial focal, with variable foci 14 tests
  • Epilepsy, familial focal, with variable foci 23 tests
  • Epilepsy, familial focal, with variable foci 33 tests
  • Epilepsy, familial focal, with variable foci 41 test
  • Epilepsy, familial temporal lobe, 13 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 102 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 111 test
  • Epilepsy, idiopathic generalized, susceptibility to, 122 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 133 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, idiopathic generalized, susceptibility to, 152 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 161 test
  • Epilepsy, idiopathic generalized, susceptibility to, 181 test
  • Epilepsy, idiopathic generalized, susceptibility to, 81 test
  • Epilepsy, idiopathic generalized, susceptibility to, 91 test
  • Epilepsy, juvenile absence, susceptibility to, 11 test
  • Epilepsy, juvenile myoclonic, susceptibility to, 105 tests
  • Epilepsy, progressive myoclonic, 112 tests
  • Epilepsy, progressive myoclonic, 1B7 tests
  • Epileptic encephalopathy, infantile or early childhood, 11 test
  • Epileptic encephalopathy, infantile or early childhood, 24 tests
  • Epileptic encephalopathy, infantile or early childhood, 31 test
  • Epiphyseal dysplasia, multiple, 25 tests
  • Epiphyseal dysplasia, multiple, 36 tests
  • Epiphyseal dysplasia, multiple, 61 test
  • Epiphyseal dysplasia, multiple, 77 tests
  • Episodic ataxia type 17 tests
  • Episodic ataxia type 22 tests
  • Episodic ataxia type 55 tests
  • Episodic ataxia type 64 tests
  • Episodic ataxia, type 97 tests
  • Episodic kinesigenic dyskinesia 11 test
  • Episodic pain syndrome, familial, 23 tests
  • Epithelial recurrent erosion dystrophy1 test
  • Epsilon-trimethyllysine hydroxylase deficiency3 tests
  • Erythrocytosis, familial, 41 test
  • Erythrocytosis, familial, 62 tests
  • Erythrocytosis, familial, 74 tests
  • Erythrokeratodermia variabilis et progressiva 11 test
  • Erythrokeratodermia variabilis et progressiva 23 tests
  • Erythrokeratodermia variabilis et progressiva 39 tests
  • Erythrokeratodermia variabilis et progressiva 44 tests
  • Erythrokeratodermia variabilis et progressiva 61 test
  • Essential fructosuria3 tests
  • Essential hypertension, genetic3 tests
  • Estrogen resistance syndrome1 test
  • Ethylmalonic encephalopathy10 tests
  • Even-plus syndrome1 test
  • Ewing sarcoma3 tests
  • Exercise-induced hyperinsulinism1 test
  • Exostoses, multiple, type 17 tests
  • Exostoses, multiple, type 22 tests
  • Extraskeletal myxoid chondrosarcoma3 tests
  • Exudative vitreoretinopathy 12 tests
  • Exudative vitreoretinopathy 2, X-linked5 tests
  • Exudative vitreoretinopathy 45 tests
  • Exudative vitreoretinopathy 52 tests
  • Exudative vitreoretinopathy 62 tests
  • Exudative vitreoretinopathy 71 test
  • Fabry disease16 tests
  • Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome3 tests
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
  • Facial paresis, hereditary congenital, 32 tests
  • Facioscapulohumeral muscular dystrophy 25 tests
  • Facioscapulohumeral muscular dystrophy 4, digenic1 test
  • Factor 5 and Factor VIII, combined deficiency of, 22 tests
  • Factor H deficiency3 tests
  • Factor I deficiency1 test
  • Factor V and factor VIII, combined deficiency of, type 12 tests
  • Factor V deficiency1 test
  • Factor XII deficiency disease1 test
  • Factor XIII, A subunit, deficiency of1 test
  • Factor XIII, b subunit, deficiency of2 tests
  • FADD-related immunodeficiency4 tests
  • Familial acute necrotizing encephalopathy1 test
  • Familial adenomatous polyposis 16 tests
  • Familial adenomatous polyposis 25 tests
  • Familial adenomatous polyposis 36 tests
  • Familial adenomatous polyposis 43 tests
  • Familial amyloid nephropathy with urticaria AND deafness5 tests
  • Familial apolipoprotein C-II deficiency5 tests
  • Familial atrial myxoma1 test
  • Familial benign flecked retina2 tests
  • Familial cancer of breast32 tests
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 23 tests
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold autoinflammatory syndrome 43 tests
  • Familial colorectal cancer type X1 test
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome2 tests
  • Familial cylindromatosis1 test
  • Familial digital arthropathy-brachydactyly9 tests
  • Familial dysautonomia1 test
  • Familial dysfibrinogenemia8 tests
  • Familial encephalopathy with neuroserpin inclusion bodies4 tests
  • Familial episodic pain syndrome with predominantly lower limb involvement1 test
  • Familial expansile osteolysis3 tests
  • Familial gestational hyperthyroidism4 tests
  • Familial hemophagocytic lymphohistiocytosis 21 test
  • Familial hemophagocytic lymphohistiocytosis 34 tests
  • Familial hemophagocytic lymphohistiocytosis 43 tests
  • Familial hemophagocytic lymphohistiocytosis 54 tests
  • Familial hyperaldosteronism type II1 test
  • Familial hyperaldosteronism type III1 test
  • Familial hyperthyroidism due to mutations in TSH receptor2 tests
  • Familial hypobetalipoproteinemia 11 test
  • Familial hypobetalipoproteinemia 22 tests
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypocalciuric hypercalcemia 35 tests
  • Familial hypokalemia-hypomagnesemia7 tests
  • Familial infantile bilateral striatal necrosis3 tests
  • Familial infantile myasthenia8 tests
  • Familial infantile myoclonic epilepsy1 test
  • Familial isolated congenital asplenia1 test
  • Familial isolated deficiency of vitamin E5 tests
  • Familial isolated dilated cardiomyopathy1 test
  • Familial juvenile hyperuricemic nephropathy type 13 tests
  • Familial juvenile hyperuricemic nephropathy type 21 test
  • Familial Mediterranean fever2 tests
  • Familial Mediterranean fever, autosomal dominant4 tests
  • Familial medullary thyroid carcinoma5 tests
  • Familial melanoma1 test
  • Familial meningioma15 tests
  • Familial multiple nevi flammei1 test
  • Familial partial lipodystrophy, Dunnigan type1 test
  • Familial porphyria cutanea tarda6 tests
  • Familial pseudohyperkalemia6 tests
  • Familial pulmonary capillary hemangiomatosis2 tests
  • Familial renal glucosuria1 test
  • Familial retinal arterial macroaneurysm1 test
  • Familial scaphocephaly syndrome, McGillivray type1 test
  • Familial spontaneous pneumothorax1 test
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness7 tests
  • Familial temporal lobe epilepsy 53 tests
  • Familial temporal lobe epilepsy 75 tests
  • Familial thyroid dyshormonogenesis 12 tests
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type7 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets6 tests
  • Fanconi anemia complementation group A7 tests
  • Fanconi anemia complementation group B5 tests
  • Fanconi anemia complementation group C7 tests
  • Fanconi anemia complementation group D112 tests
  • Fanconi anemia complementation group D23 tests
  • Fanconi anemia complementation group E1 test
  • Fanconi anemia complementation group F2 tests
  • Fanconi anemia complementation group G3 tests
  • Fanconi anemia complementation group I3 tests
  • Fanconi anemia complementation group J5 tests
  • Fanconi anemia complementation group L3 tests
  • Fanconi anemia complementation group N7 tests
  • Fanconi anemia complementation group O6 tests
  • Fanconi anemia complementation group P3 tests
  • Fanconi anemia complementation group Q2 tests
  • Fanconi anemia complementation group R1 test
  • Fanconi anemia complementation group T2 tests
  • Fanconi anemia complementation group U4 tests
  • Fanconi anemia, complementation group S14 tests
  • Fanconi renotubular syndrome 17 tests
  • Fanconi renotubular syndrome 21 test
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
  • Fanconi renotubular syndrome 59 tests
  • Fanconi-Bickel syndrome1 test
  • Farber lipogranulomatosis8 tests
  • Fasting plasma glucose level quantitative trait locus 52 tests
  • Fatal familial insomnia2 tests
  • Fatal infantile hypertonic myofibrillar myopathy5 tests
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 38 tests
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 41 test
  • Febrile seizures, familial, 83 tests
  • Feingold syndrome type 15 tests
  • Female infertility due to zona pellucida defect2 tests
  • Fetal akinesia deformation sequence 15 tests
  • Fetal akinesia deformation sequence 21 test
  • Fetal akinesia deformation sequence 31 test
  • FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES5 tests
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
  • Fetal hemoglobin quantitative trait locus 63 tests
  • FG syndrome 12 tests
  • FG syndrome 21 test
  • FG syndrome 49 tests
  • FGFR2-related bent bone dysplasia1 test
  • Fibrillary astrocytoma2 tests
  • Fibrochondrogenesis 11 test
  • Fibrochondrogenesis 21 test
  • Fibromatosis, gingival, 16 tests
  • Fibromatosis, gingival, 51 test
  • FIBROMUSCULAR DYSPLASIA, MULTIFOCAL1 test
  • Fibrosarcoma1 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement4 tests
  • Finnish congenital nephrotic syndrome4 tests
  • Fish-eye disease5 tests
  • Fissured tongue1 test
  • Floating-Harbor syndrome3 tests
  • Focal dermal hypoplasia4 tests
  • Focal facial dermal dysplasia type III1 test
  • Focal segmental glomerulosclerosis 14 tests
  • Focal segmental glomerulosclerosis 25 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to3 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 65 tests
  • Focal segmental glomerulosclerosis 71 test
  • Focal segmental glomerulosclerosis 83 tests
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome3 tests
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome4 tests
  • Foveal hypoplasia 110 tests
  • Fowler syndrome3 tests
  • Fragile X syndrome3 tests
  • Fragile X-associated tremor/ataxia syndrome6 tests
  • Frank-Ter Haar syndrome5 tests
  • Fraser syndrome 17 tests
  • Fraser syndrome 21 test
  • Fraser syndrome 38 tests
  • Frasier syndrome3 tests
  • FRAXE2 tests
  • Freeman-Sheldon syndrome4 tests
  • Friedreich ataxia 17 tests
  • Frontometaphyseal dysplasia 11 test
  • Frontometaphyseal dysplasia 21 test
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome3 tests
  • Frontonasal dysplasia with alopecia and genital anomaly4 tests
  • Frontorhiny1 test
  • Frontotemporal dementia2 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 12 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 23 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 33 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 53 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 68 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 74 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 81 test
  • Fructose-biphosphatase deficiency5 tests
  • Fucosidosis11 tests
  • Fuhrmann syndrome1 test
  • Fumarase deficiency1 test
  • Gabriele de Vries syndrome3 tests
  • Galactosylceramide beta-galactosidase deficiency10 tests
  • Gallbladder disease 41 test
  • Galloway-Mowat syndrome 15 tests
  • Galloway-Mowat syndrome 2, X-linked2 tests
  • Galloway-Mowat syndrome 36 tests
  • Galloway-Mowat syndrome 42 tests
  • Galloway-Mowat syndrome 53 tests
  • Galloway-Mowat syndrome 63 tests
  • Galloway-Mowat syndrome 71 test
  • Galloway-Mowat syndrome 85 tests
  • Gamma-aminobutyric acid transaminase deficiency6 tests
  • Gamma-glutamylcysteine synthetase deficiency2 tests
  • Gapo syndrome2 tests
  • Gastric adenocarcinoma and proximal polyposis of the stomach6 tests
  • Gastric cancer9 tests
  • Gastrointestinal defects and immunodeficiency syndrome 13 tests
  • Gastrointestinal stromal tumor10 tests
  • Gaucher disease6 tests
  • Gaucher disease perinatal lethal1 test
  • Gaucher disease type I12 tests
  • Gaucher disease type II1 test
  • Gaucher disease type III1 test
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
  • Gaze palsy, familial horizontal, with progressive scoliosis 11 test
  • Gaze palsy, familial horizontal, with progressive scoliosis, 21 test
  • Geleophysic dysplasia 15 tests
  • Geleophysic dysplasia 22 tests
  • Geleophysic dysplasia 31 test
  • Gemistocytic astrocytoma2 tests
  • Generalized dominant dystrophic epidermolysis bullosa1 test
  • Generalized epilepsy with febrile seizures plus, type 101 test
  • Generalized epilepsy with febrile seizures plus, type 22 tests
  • Generalized epilepsy with febrile seizures plus, type 93 tests
  • Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
  • Genitopatellar syndrome6 tests
  • Germ cell tumor of testis5 tests
  • Geroderma osteodysplastica5 tests
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Ghosal hematodiaphyseal dysplasia3 tests
  • Giant axonal neuropathy 16 tests
  • Gilbert syndrome1 test
  • Gillespie syndrome5 tests
  • Gillessen-Kaesbach-Nishimura syndrome7 tests
  • Glanzmann thrombasthenia 11 test
  • Glaucoma 1, open angle, A2 tests
  • Glaucoma 1, open angle, F2 tests
  • Glaucoma 1, open angle, G2 tests
  • Glaucoma 1, open angle, O2 tests
  • Glaucoma 3, primary congenital, D1 test
  • Glaucoma 3, primary congenital, E1 test
  • Glaucoma 3A1 test
  • Glaucoma, normal tension, susceptibility to2 tests
  • Glaucoma, primary closed-angle1 test
  • Glioma susceptibility 18 tests
  • Glioma susceptibility 27 tests
  • Glioma susceptibility 312 tests
  • Glioma susceptibility 94 tests
  • Global developmental delay with or without impaired intellectual development2 tests
  • Glomerulopathy with fibronectin deposits 21 test
  • Glucocorticoid deficiency 11 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency 43 tests
  • Glucocorticoid deficiency with achalasia4 tests
  • Glucocorticoid resistance2 tests
  • Glucocorticoid-remediable aldosteronism2 tests
  • Glucose-6-phosphate transport defect1 test
  • Glutamate pyruvate transaminase 2 deficiency4 tests
  • Glutaric aciduria, type 19 tests
  • Glutaryl-CoA oxidase deficiency4 tests
  • Glutathione synthetase deficiency with 5-oxoprolinuria4 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria2 tests
  • Gluthathione peroxidase deficiency5 tests
  • Glycine N-methyltransferase deficiency3 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA6 tests
  • Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency1 test
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency6 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency6 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency6 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency9 tests
  • Glycogen storage disease IXa14 tests
  • Glycogen storage disease IXb4 tests
  • Glycogen storage disease IXc5 tests
  • Glycogen storage disease IXd6 tests
  • Glycogen storage disease type III9 tests
  • Glycogen storage disease type X6 tests
  • Glycogen storage disease XV5 tests
  • Glycogen storage disease, type II16 tests
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V7 tests
  • Glycogen storage disease, type VI5 tests
  • Glycogen storage disease, type VII8 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency5 tests
  • Glycosylphosphatidylinositol biosynthesis defect 153 tests
  • Glycosylphosphatidylinositol biosynthesis defect 163 tests
  • Glycosylphosphatidylinositol biosynthesis defect 173 tests
  • Glycosylphosphatidylinositol biosynthesis defect 183 tests
  • Glycosylphosphatidylinositol biosynthesis defect 213 tests
  • GM1 gangliosidosis type 21 test
  • GM1 gangliosidosis type 36 tests
  • GM3 synthase deficiency3 tests
  • Gnathodiaphyseal dysplasia1 test
  • Gnb5-related intellectual disability-cardiac arrhythmia syndrome1 test
  • GNE myopathy1 test
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors4 tests
  • Goldberg-Shprintzen megacolon syndrome4 tests
  • Goldblatt syndrome1 test
  • Gonadotropin-independent familial sexual precocity1 test
  • Gordon syndrome1 test
  • Gorlin syndrome8 tests
  • GRACILE syndrome1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 22 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 32 tests
  • Granulomatous disease, chronic, X-linked2 tests
  • Gray platelet syndrome3 tests
  • Grebe syndrome1 test
  • Greenberg dysplasia1 test
  • Greig cephalopolysyndactyly syndrome8 tests
  • Griscelli syndrome type 18 tests
  • Griscelli syndrome type 28 tests
  • Griscelli syndrome type 36 tests
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions8 tests
  • Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome5 tests
  • Growth delay due to insulin-like growth factor I resistance6 tests
  • Growth delay due to insulin-like growth factor type 1 deficiency4 tests
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • GTP cyclohydrolase I deficiency with hyperphenylalaninemia7 tests
  • Guillain-Barre syndrome, familial2 tests
  • H syndrome5 tests
  • Haddad syndrome1 test
  • Haim-Munk syndrome1 test
  • Hair morphology 13 tests
  • Hajdu-Cheney syndrome10 tests
  • Hand-foot-genital syndrome4 tests
  • Harderoporphyria5 tests
  • Hartsfield-Bixler-Demyer syndrome7 tests
  • Hashimoto thyroiditis1 test
  • Hawkinsinuria1 test
  • Hb SS disease2 tests
  • Hearing loss, autosomal dominant 34, with or without inflammation1 test
  • Hearing loss, autosomal dominant 372 tests
  • Hearing loss, autosomal dominant 713 tests
  • Hearing loss, autosomal dominant 721 test
  • Hearing loss, autosomal dominant 753 tests
  • Hearing loss, autosomal dominant 801 test
  • Hearing loss, autosomal dominant 811 test
  • Hearing loss, autosomal recessive 1061 test
  • Hearing loss, autosomal recessive 1071 test
  • Hearing loss, autosomal recessive 1081 test
  • Hearing loss, autosomal recessive 1091 test
  • Hearing loss, autosomal recessive 1102 tests
  • Hearing loss, autosomal recessive 1111 test
  • Hearing loss, autosomal recessive 1121 test
  • Hearing loss, autosomal recessive 1131 test
  • Hearing loss, autosomal recessive 573 tests
  • Hearing loss, autosomal recessive 941 test
  • Hearing loss, X-linked 42 tests
  • Hearing loss, X-linked 62 tests
  • Heart and brain malformation syndrome1 test
  • Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
  • Heart-hand syndrome, Slovenian type9 tests
  • Hecht syndrome1 test
  • Heimler syndrome 112 tests
  • Heimler syndrome 211 tests
  • Heinz body anemia11 tests
  • Helicobacter pylori infection, susceptibility to1 test
  • Helicoid peripapillary chorioretinal degeneration1 test
  • Heme oxygenase 1 deficiency1 test
  • Hemochromatosis type 12 tests
  • Hemochromatosis type 2A4 tests
  • Hemochromatosis type 2B7 tests
  • Hemochromatosis type 39 tests
  • Hemochromatosis type 43 tests
  • Hemoglobin H disease9 tests
  • Hemoglobin Lepore-beta-thalassemia syndrome1 test
  • Hemolytic anemia due to adenylate kinase deficiency2 tests
  • Hemolytic anemia due to erythrocyte adenosine deaminase overproduction1 test
  • Hemolytic anemia due to glucophosphate isomerase deficiency4 tests
  • Hemolytic anemia due to glutathione reductase deficiency3 tests
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
  • Hemolytic uremic syndrome, atypical, susceptibility to, 15 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 12 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 21 test
  • Heparin cofactor II deficiency2 tests
  • Hepatic adenomas, familial2 tests
  • Hepatic methionine adenosyltransferase deficiency2 tests
  • Hepatic veno-occlusive disease-immunodeficiency syndrome2 tests
  • Hepatitis B virus, susceptibility to3 tests
  • Hepatitis C virus, susceptibility to4 tests
  • Hepatocellular carcinoma16 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 110 tests
  • Hereditary acrodermatitis enteropathica2 tests
  • Hereditary angioedema type 14 tests
  • Hereditary angioedema type 34 tests
  • Hereditary antithrombin deficiency3 tests
  • Hereditary arterial and articular multiple calcification syndrome2 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary coproporphyria4 tests
  • Hereditary cryohydrocytosis with reduced stomatin2 tests
  • Hereditary diffuse gastric adenocarcinoma7 tests
  • Hereditary disease4 tests
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease5 tests
  • Hereditary factor X deficiency disease3 tests
  • Hereditary factor XI deficiency disease4 tests
  • Hereditary fructosuria9 tests
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary insensitivity to pain with anhidrosis6 tests
  • Hereditary intrinsic factor deficiency3 tests
  • Hereditary leiomyomatosis and renal cell cancer12 tests
  • Hereditary liability to pressure palsies2 tests
  • Hereditary mixed polyposis syndrome1 test
  • Hereditary motor and sensory neuropathy, Okinawa type1 test
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency6 tests
  • Hereditary neutrophilia3 tests
  • Hereditary pancreatitis9 tests
  • Hereditary persistence of fetal hemoglobin2 tests
  • Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1 test
  • Hereditary sensory and autonomic neuropathy type 61 test
  • Hereditary sensory and autonomic neuropathy type 71 test
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia5 tests
  • Hereditary sensory neuropathy-deafness-dementia syndrome1 test
  • Hereditary spastic paraplegia 109 tests
  • Hereditary spastic paraplegia 125 tests
  • Hereditary spastic paraplegia 134 tests
  • Hereditary spastic paraplegia 159 tests
  • Hereditary spastic paraplegia 171 test
  • Hereditary spastic paraplegia 185 tests
  • Hereditary spastic paraplegia 29 tests
  • Hereditary spastic paraplegia 231 test
  • Hereditary spastic paraplegia 265 tests
  • Hereditary spastic paraplegia 285 tests
  • Hereditary spastic paraplegia 307 tests
  • Hereditary spastic paraplegia 311 test
  • Hereditary spastic paraplegia 334 tests
  • Hereditary spastic paraplegia 355 tests
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 3A1 test
  • Hereditary spastic paraplegia 48 tests
  • Hereditary spastic paraplegia 423 tests
  • Hereditary spastic paraplegia 439 tests
  • Hereditary spastic paraplegia 455 tests
  • Hereditary spastic paraplegia 465 tests
  • Hereditary spastic paraplegia 477 tests
  • Hereditary spastic paraplegia 485 tests
  • Hereditary spastic paraplegia 496 tests
  • Hereditary spastic paraplegia 509 tests
  • Hereditary spastic paraplegia 516 tests
  • Hereditary spastic paraplegia 535 tests
  • Hereditary spastic paraplegia 545 tests
  • Hereditary spastic paraplegia 555 tests
  • Hereditary spastic paraplegia 566 tests
  • Hereditary spastic paraplegia 577 tests
  • Hereditary spastic paraplegia 5A2 tests
  • Hereditary spastic paraplegia 65 tests
  • Hereditary spastic paraplegia 615 tests
  • Hereditary spastic paraplegia 625 tests
  • Hereditary spastic paraplegia 631 test
  • Hereditary spastic paraplegia 645 tests
  • Hereditary spastic paraplegia 78 tests
  • Hereditary spastic paraplegia 725 tests
  • Hereditary spastic paraplegia 736 tests
  • Hereditary spastic paraplegia 755 tests
  • Hereditary spastic paraplegia 778 tests
  • Hereditary spastic paraplegia 81 test
  • Hereditary spastic paraplegia 9A12 tests
  • Hereditary spherocytosis type 13 tests
  • Hereditary spherocytosis type 21 test
  • Hereditary spherocytosis type 34 tests
  • Hereditary spherocytosis type 46 tests
  • Hereditary spherocytosis type 54 tests
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX15 tests
  • Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency2 tests
  • Hereditary xanthinuria type 11 test
  • Hermansky-Pudlak syndrome 110 tests
  • Hermansky-Pudlak syndrome 102 tests
  • Hermansky-Pudlak syndrome 210 tests
  • Hermansky-Pudlak syndrome 38 tests
  • Hermansky-Pudlak syndrome 410 tests
  • Hermansky-Pudlak syndrome 510 tests
  • Hermansky-Pudlak syndrome 610 tests
  • Hermansky-Pudlak syndrome 79 tests
  • Hermansky-Pudlak syndrome 87 tests
  • Hermansky-Pudlak syndrome 97 tests
  • Herpes simplex encephalitis, susceptibility to, 42 tests
  • Herpes simplex encephalitis, susceptibility to, 71 test
  • Heterotaxy, visceral, 1, X-linked6 tests
  • Heterotaxy, visceral, 4, autosomal5 tests
  • Heterotaxy, visceral, 5, autosomal5 tests
  • Heterotaxy, visceral, 6, autosomal5 tests
  • Heterotaxy, visceral, 7, autosomal4 tests
  • Heterotaxy, visceral, 8, autosomal5 tests
  • Heterotopia, periventricular, X-linked dominant1 test
  • Heyn-Sproul-Jackson syndrome2 tests
  • HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME3 tests
  • Hidrotic ectodermal dysplasia syndrome1 test
  • High density lipoprotein cholesterol level quantitative trait locus 121 test
  • High myopia-sensorineural deafness syndrome1 test
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction1 test
  • Hirschsprung disease, susceptibility to, 12 tests
  • Hirschsprung disease, susceptibility to, 21 test
  • Hirschsprung disease, susceptibility to, 35 tests
  • Hirschsprung disease, susceptibility to, 41 test
  • Histiocytic medullary reticulosis2 tests
  • HNSHA due to aldolase A deficiency8 tests
  • Holocarboxylase synthetase deficiency8 tests
  • Holoprosencephaly 114 tests
  • Holoprosencephaly 12 with or without pancreatic agenesis1 test
  • Holoprosencephaly 13, X-linked1 test
  • Holoprosencephaly 21 test
  • Holoprosencephaly 34 tests
  • Holoprosencephaly 44 tests
  • Holoprosencephaly 54 tests
  • Holoprosencephaly 91 test
  • Holt-Oram syndrome6 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • HSD10 mitochondrial disease6 tests
  • Human HOXA1 syndromes3 tests
  • Huntington disease2 tests
  • Huntington disease-like 13 tests
  • Huntington disease-like 21 test
  • Hurler syndrome6 tests
  • Hutchinson-Gilford syndrome1 test
  • Hyaline fibromatosis syndrome5 tests
  • Hydatidiform mole, recurrent, 11 test
  • Hydatidiform mole, recurrent, 22 tests
  • Hydrocephalus, congenital, 3, with brain anomalies1 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 11 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 23 tests
  • Hydrolethalus syndrome 14 tests
  • Hydrolethalus syndrome 22 tests
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome1 test
  • Hydroxykynureninuria1 test
  • Hyper-IgE recurrent infection syndrome 11 test
  • Hyper-IgM syndrome type 15 tests
  • Hyper-IgM syndrome type 23 tests
  • Hyper-IgM syndrome type 33 tests
  • Hyper-IgM syndrome type 55 tests
  • Hyperalphalipoproteinemia 14 tests
  • Hyperammonemia, type III8 tests
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency4 tests
  • Hypercalcemia, infantile, 14 tests
  • Hypercalcemia, infantile, 24 tests
  • Hypercholanemia, familial 11 test
  • Hypercholesterolemia, autosomal dominant, 34 tests
  • Hypercholesterolemia, autosomal dominant, type B5 tests
  • Hypercholesterolemia, familial, 110 tests
  • Hypercholesterolemia, familial, 44 tests
  • Hyperekplexia 15 tests
  • Hyperekplexia 25 tests
  • Hyperekplexia 34 tests
  • Hyperekplexia 43 tests
  • Hyperglycinuria1 test
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperinsulinemic hypoglycemia, familial, 12 tests
  • Hyperinsulinemic hypoglycemia, familial, 22 tests
  • Hyperinsulinemic hypoglycemia, familial, 47 tests
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperinsulinism due to INSR deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome6 tests
  • Hyperkalemic periodic paralysis1 test
  • Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia type IV1 test
  • Hyperlipoproteinemia, type 1D3 tests
  • Hyperlipoproteinemia, type I6 tests
  • Hyperlysinemia4 tests
  • Hypermanganesemia with dystonia 22 tests
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis3 tests
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase5 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome10 tests
  • Hyperostosis cranialis interna1 test
  • Hyperparathyroidism 11 test
  • Hyperparathyroidism 2 with jaw tumors2 tests
  • Hyperparathyroidism 41 test
  • Hyperphenylalaninemia due to DNAJC12 deficiency3 tests
  • Hyperphosphatasemia with bone disease5 tests
  • Hyperphosphatasia with intellectual disability syndrome 16 tests
  • Hyperphosphatasia with intellectual disability syndrome 24 tests
  • Hyperphosphatasia with intellectual disability syndrome 33 tests
  • Hyperphosphatasia with intellectual disability syndrome 41 test
  • Hyperphosphatasia with intellectual disability syndrome 53 tests
  • Hyperpigmentation with or without hypopigmentation, familial progressive3 tests
  • Hyperproinsulinemia1 test
  • Hyperthyroxinemia, dystransthyretinemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertriglyceridemia, familial5 tests
  • Hypertrophic cardiomyopathy 14 tests
  • Hypertrophic cardiomyopathy 103 tests
  • Hypertrophic cardiomyopathy 111 test
  • Hypertrophic cardiomyopathy 124 tests
  • Hypertrophic cardiomyopathy 132 tests
  • Hypertrophic cardiomyopathy 141 test
  • Hypertrophic cardiomyopathy 152 tests
  • Hypertrophic cardiomyopathy 162 tests
  • Hypertrophic cardiomyopathy 171 test
  • Hypertrophic cardiomyopathy 184 tests
  • Hypertrophic cardiomyopathy 22 tests
  • Hypertrophic cardiomyopathy 201 test
  • Hypertrophic cardiomyopathy 255 tests
  • Hypertrophic cardiomyopathy 262 tests
  • Hypertrophic cardiomyopathy 32 tests
  • Hypertrophic cardiomyopathy 41 test
  • Hypertrophic cardiomyopathy 61 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 82 tests
  • Hypertrophic cardiomyopathy 91 test
  • Hypertrophic osteoarthropathy, primary, autosomal dominant2 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 14 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome6 tests
  • Hyperuricemic nephropathy, familial juvenile type 43 tests
  • Hypervalinemia and hyperleucine-isoleucinemia1 test
  • Hypoalphalipoproteinemia, primary, 11 test
  • Hypoalphalipoproteinemia, primary, 21 test
  • Hypoalphalipoproteinemia, primary, 2, intermediate1 test
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 14 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 15 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 16 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 17 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 18 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 19 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 2 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 20 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 21 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 22 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 24 without anosmia4 tests
  • Hypogonadotropic hypogonadism 26 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 3 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia12 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia4 tests
  • Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome1 test
  • Hypohidrotic X-linked ectodermal dysplasia3 tests
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy5 tests
  • Hypokalemic periodic paralysis, type 13 tests
  • Hypokalemic periodic paralysis, type 27 tests
  • Hypomagnesemia, seizures, and intellectual disability 14 tests
  • Hypomagnesemia, seizures, and intellectual disability 21 test
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
  • Hypomyelinating leukodystrophy 107 tests
  • Hypomyelinating leukodystrophy 111 test
  • Hypomyelinating leukodystrophy 121 test
  • Hypomyelinating leukodystrophy 134 tests
  • Hypomyelinating leukodystrophy 38 tests
  • Hypomyelinating leukodystrophy 49 tests
  • Hypomyelinating leukodystrophy 63 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
  • Hypomyelinating leukodystrophy 97 tests
  • Hypomyelination and Congenital Cataract6 tests
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity7 tests
  • Hypoparathyroidism, deafness, renal disease syndrome4 tests
  • Hypoparathyroidism, familial isolated 11 test
  • Hypoparathyroidism, familial isolated, 21 test
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 11 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 22 tests
  • Hypophosphatemic rickets, autosomal recessive, 15 tests
  • Hypophosphatemic rickets, autosomal recessive, 26 tests
  • Hypophosphatemic rickets, X-linked recessive5 tests
  • Hypopigmentation, organomegaly, and delayed myelination and development4 tests
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome3 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome3 tests
  • Hypoplastic left heart syndrome 22 tests
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome4 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypoproteinemia, hypercatabolic1 test
  • Hypospadias 1, X-linked3 tests
  • Hypospadias 2, X-linked4 tests
  • Hypothalamic hypothyroidism2 tests
  • Hypothryoidism, congenital, nongoitrous 43 tests
  • Hypothyroidism due to TSH receptor mutations2 tests
  • Hypothyroidism, congenital, nongoitrous, 22 tests
  • Hypothyroidism, congenital, nongoitrous, 54 tests
  • Hypothyroidism, congenital, nongoitrous, 72 tests
  • Hypothyroidism, congenital, nongoitrous, 82 tests
  • Hypothyroidism, congenital, nongoitrous, 91 test
  • Hypotonia with lactic acidemia and hyperammonemia7 tests
  • Hypotonia, ataxia, and delayed development syndrome5 tests
  • Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities2 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 16 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 26 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 34 tests
  • Hypotrichosis 12 tests
  • Hypotrichosis 112 tests
  • Hypotrichosis 122 tests
  • Hypotrichosis 131 test
  • Hypotrichosis 142 tests
  • Hypotrichosis 22 tests
  • Hypotrichosis 32 tests
  • Hypotrichosis 41 test
  • Hypotrichosis 62 tests
  • Hypotrichosis 73 tests
  • Hypotrichosis 82 tests
  • I blood group system2 tests
  • Ichthyosis bullosa of Siemens2 tests
  • Ichthyosis hystrix of Curth-Macklin2 tests
  • Ichthyosis prematurity syndrome4 tests
  • Ichthyosis vulgaris1 test
  • Ichthyosis, congenital, autosomal recessive 122 tests
  • Ichthyosis, congenital, autosomal recessive 132 tests
  • Ichthyosis, hystrix-like, with hearing loss1 test
  • Idiopathic basal ganglia calcification 15 tests
  • Idiopathic Pulmonary Fibrosis2 tests
  • IFAP syndrome with or without BRESHECK syndrome7 tests
  • IgE responsiveness, atopic1 test
  • IMAGe syndrome3 tests
  • Imerslund-Grasbeck syndrome type 14 tests
  • Imerslund-Grasbeck syndrome type 22 tests
  • Iminoglycinuria1 test
  • Immunodeficiency 1044 tests
  • Immunodeficiency 1051 test
  • Immunodeficiency 11b with atopic dermatitis1 test
  • Immunodeficiency 14b, autosomal recessive2 tests
  • Immunodeficiency 15a5 tests
  • Immunodeficiency 183 tests
  • Immunodeficiency 193 tests
  • Immunodeficiency 232 tests
  • Immunodeficiency 253 tests
  • Immunodeficiency 27A1 test
  • Immunodeficiency 31B1 test
  • Immunodeficiency 32B1 test
  • Immunodeficiency 331 test
  • Immunodeficiency 352 tests
  • Immunodeficiency 362 tests
  • Immunodeficiency 473 tests
  • Immunodeficiency 512 tests
  • Immunodeficiency 572 tests
  • Immunodeficiency 602 tests
  • Immunodeficiency 642 tests
  • Immunodeficiency 672 tests
  • Immunodeficiency 701 test
  • Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia2 tests
  • Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia1 test
  • Immunodeficiency 753 tests
  • Immunodeficiency 78 with autoimmunity and developmental delay2 tests
  • Immunodeficiency 958 tests
  • Immunodeficiency 961 test
  • Immunodeficiency due to CD25 deficiency4 tests
  • Immunodeficiency due to ficolin3 deficiency2 tests
  • Immunodeficiency due to MASP-2 deficiency2 tests
  • Immunodeficiency, common variable, 13 tests
  • Immunodeficiency, common variable, 103 tests
  • Immunodeficiency, common variable, 123 tests
  • Immunodeficiency, common variable, 21 test
  • Immunodeficiency, common variable, 33 tests
  • Immunodeficiency, common variable, 42 tests
  • Immunodeficiency, common variable, 53 tests
  • Immunodeficiency, common variable, 63 tests
  • Immunodeficiency, common variable, 71 test
  • Immunodeficiency, developmental delay, and hypohomocysteinemia5 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 12 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 25 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 32 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 42 tests
  • Immunoglobulin A deficiency 23 tests
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis5 tests
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities2 tests
  • Inclusion body myopathy and brain white matter abnormalities3 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 23 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
  • Incontinentia pigmenti syndrome1 test
  • Infantile cerebellar-retinal degeneration7 tests
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly6 tests
  • Infantile convulsions and choreoathetosis1 test
  • Infantile cortical hyperostosis1 test
  • Infantile GM1 gangliosidosis1 test
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency7 tests
  • Infantile hypophosphatasia1 test
  • Infantile liver failure syndrome 210 tests
  • Infantile nephronophthisis7 tests
  • Infantile neuroaxonal dystrophy8 tests
  • Infantile onset spinocerebellar ataxia12 tests
  • Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression1 test
  • Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
  • Infantile-onset X-linked spinal muscular atrophy5 tests
  • Infertility associated with multi-tailed spermatozoa and excessive DNA2 tests
  • Inflammatory bowel disease 12 tests
  • Inflammatory bowel disease 132 tests
  • Inflammatory bowel disease 251 test
  • Inflammatory bowel disease 282 tests
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy6 tests
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Inherited Creutzfeldt-Jakob disease2 tests
  • Inherited susceptibility to asthma1 test
  • Inosine triphosphatase deficiency3 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome5 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder 593 tests
  • Intellectual developmental disorder 60 with seizures4 tests
  • Intellectual developmental disorder 613 tests
  • Intellectual developmental disorder 622 tests
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies1 test
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2 tests
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies3 tests
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies1 test
  • Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1 test
  • Intellectual developmental disorder with macrocephaly, seizures, and speech delay3 tests
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2 tests
  • Intellectual developmental disorder with severe speech and ambulation defects3 tests
  • Intellectual developmental disorder, autosomal dominant 643 tests
  • Intellectual developmental disorder, autosomal dominant 653 tests
  • Intellectual developmental disorder, autosomal dominant 672 tests
  • Intellectual developmental disorder, autosomal dominant 681 test
  • Intellectual developmental disorder, autosomal dominant 691 test
  • Intellectual developmental disorder, autosomal recessive 673 tests
  • Intellectual developmental disorder, autosomal recessive 701 test
  • Intellectual developmental disorder, autosomal recessive 762 tests
  • Intellectual developmental disorder, autosomal recessive 771 test
  • INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE3 tests
  • Intellectual disability and myopathy syndrome1 test
  • Intellectual disability, anterior maxillary protrusion, and strabismus2 tests
  • Intellectual disability, autosomal dominant 14 tests
  • Intellectual disability, autosomal dominant 113 tests
  • Intellectual disability, autosomal dominant 135 tests
  • Intellectual disability, autosomal dominant 144 tests
  • Intellectual disability, autosomal dominant 151 test
  • Intellectual disability, autosomal dominant 161 test
  • Intellectual disability, autosomal dominant 205 tests
  • Intellectual disability, autosomal dominant 223 tests
  • Intellectual disability, autosomal dominant 243 tests
  • Intellectual disability, autosomal dominant 275 tests
  • Intellectual disability, autosomal dominant 294 tests
  • Intellectual disability, autosomal dominant 33 tests
  • Intellectual disability, autosomal dominant 303 tests
  • Intellectual disability, autosomal dominant 333 tests
  • Intellectual disability, autosomal dominant 342 tests
  • Intellectual disability, autosomal dominant 381 test
  • Intellectual disability, autosomal dominant 394 tests
  • Intellectual disability, autosomal dominant 403 tests
  • Intellectual disability, autosomal dominant 412 tests
  • Intellectual disability, autosomal dominant 423 tests
  • Intellectual disability, autosomal dominant 433 tests
  • Intellectual disability, autosomal dominant 454 tests
  • Intellectual disability, autosomal dominant 462 tests
  • Intellectual disability, autosomal dominant 473 tests
  • Intellectual disability, autosomal dominant 484 tests
  • Intellectual disability, autosomal dominant 54 tests
  • Intellectual disability, autosomal dominant 503 tests
  • Intellectual disability, autosomal dominant 513 tests
  • Intellectual disability, autosomal dominant 523 tests
  • Intellectual disability, autosomal dominant 533 tests
  • Intellectual disability, autosomal dominant 543 tests
  • Intellectual disability, autosomal dominant 55, with seizures4 tests
  • Intellectual disability, autosomal dominant 564 tests
  • Intellectual disability, autosomal dominant 573 tests
  • Intellectual disability, autosomal dominant 582 tests
  • Intellectual disability, autosomal dominant 61 test
  • Intellectual disability, autosomal dominant 81 test
  • Intellectual disability, autosomal dominant 91 test
  • Intellectual disability, autosomal recessive 13 tests
  • Intellectual disability, autosomal recessive 125 tests
  • Intellectual disability, autosomal recessive 135 tests
  • Intellectual disability, autosomal recessive 143 tests
  • Intellectual disability, autosomal recessive 183 tests
  • Intellectual disability, autosomal recessive 24 tests
  • Intellectual disability, autosomal recessive 273 tests
  • Intellectual disability, autosomal recessive 33 tests
  • Intellectual disability, autosomal recessive 343 tests
  • Intellectual disability, autosomal recessive 428 tests
  • Intellectual disability, autosomal recessive 433 tests
  • Intellectual disability, autosomal recessive 443 tests
  • Intellectual disability, autosomal recessive 463 tests
  • Intellectual disability, autosomal recessive 471 test
  • Intellectual disability, autosomal recessive 54 tests
  • Intellectual disability, autosomal recessive 503 tests
  • Intellectual disability, autosomal recessive 513 tests
  • Intellectual disability, autosomal recessive 523 tests
  • Intellectual disability, autosomal recessive 533 tests
  • Intellectual disability, autosomal recessive 543 tests
  • Intellectual disability, autosomal recessive 563 tests
  • Intellectual disability, autosomal recessive 573 tests
  • Intellectual disability, autosomal recessive 583 tests
  • Intellectual disability, autosomal recessive 593 tests
  • Intellectual disability, autosomal recessive 62 tests
  • Intellectual disability, autosomal recessive 603 tests
  • Intellectual disability, autosomal recessive 613 tests
  • Intellectual disability, autosomal recessive 631 test
  • Intellectual disability, autosomal recessive 653 tests
  • Intellectual disability, autosomal recessive 663 tests
  • Intellectual disability, autosomal recessive 76 tests
  • Intellectual disability, FRA12A type3 tests
  • Intellectual disability, X-linked 14 tests
  • Intellectual disability, X-linked 1023 tests
  • Intellectual disability, X-linked 1043 tests
  • Intellectual disability, X-linked 196 tests
  • Intellectual disability, X-linked 213 tests
  • Intellectual disability, X-linked 303 tests
  • Intellectual disability, X-linked 413 tests
  • Intellectual disability, X-linked 494 tests
  • Intellectual disability, X-linked 501 test
  • Intellectual disability, X-linked 583 tests
  • Intellectual disability, X-linked 634 tests
  • Intellectual disability, X-linked 721 test
  • Intellectual disability, X-linked 93 tests
  • Intellectual disability, X-linked 901 test
  • Intellectual disability, X-linked 933 tests
  • Intellectual disability, X-linked 963 tests
  • Intellectual disability, X-linked 974 tests
  • Intellectual disability, X-linked 991 test
  • Intellectual disability, X-linked 99, syndromic, female-restricted3 tests
  • Intellectual disability, X-linked syndromic, Turner type5 tests
  • Intellectual disability, X-linked, syndromic 331 test
  • Intellectual disability, X-linked, syndromic, 355 tests
  • Intellectual disability, X-linked, syndromic, Bain type3 tests
  • Intellectual disability, X-linked, syndromic, Houge type3 tests
  • Intellectual disability, X-linked, with or without seizures, arx-related1 test
  • Intellectual disability, X-linked, with panhypopituitarism5 tests
  • Intellectual disability-cataracts-calcified pinnae-myopathy syndrome5 tests
  • Intellectual disability-epilepsy-extrapyramidal syndrome4 tests
  • Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3 tests
  • Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome3 tests
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome4 tests
  • Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
  • Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome3 tests
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome4 tests
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome5 tests
  • Intellectual disability-strabismus syndrome3 tests
  • Interstitial lung disease due to ABCA3 deficiency3 tests
  • Intervertebral disc disorder1 test
  • Intestinal hypomagnesemia 14 tests
  • Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
  • Intracerebral hemorrhage2 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1 test
  • Iodotyrosine deiodination defect2 tests
  • Iodotyrosyl coupling defect1 test
  • Irido-corneo-trabecular dysgenesis1 test
  • Iron-refractory iron deficiency anemia2 tests
  • Ischemic stroke2 tests
  • Isolated congenital digital clubbing1 test
  • Isolated congenital megalocornea1 test
  • Isolated cryptophthalmia6 tests
  • Isolated focal cortical dysplasia type II6 tests
  • Isolated focal non-epidermolytic palmoplantar keratoderma1 test
  • Isolated growth hormone deficiency, type 42 tests
  • Isolated hyperchlorhidrosis2 tests
  • Isolated lutropin deficiency4 tests
  • Isolated microphthalmia 21 test
  • Isolated microphthalmia 32 tests
  • Isolated microphthalmia 51 test
  • Isolated microphthalmia 63 tests
  • Isolated microphthalmia 71 test
  • Isolated microphthalmia 83 tests
  • Isolated neonatal sclerosing cholangitis4 tests
  • Isovaleryl-CoA dehydrogenase deficiency8 tests
  • Jaberi-Elahi syndrome3 tests
  • Jackson-Weiss syndrome10 tests
  • Jalili syndrome1 test
  • Jawad syndrome9 tests
  • Jervell and Lange-Nielsen syndrome 21 test
  • Johanson-Blizzard syndrome7 tests
  • Joubert syndrome 110 tests
  • Joubert syndrome 101 test
  • Joubert syndrome 139 tests
  • Joubert syndrome 148 tests
  • Joubert syndrome 1510 tests
  • Joubert syndrome 169 tests
  • Joubert syndrome 177 tests
  • Joubert syndrome 181 test
  • Joubert syndrome 210 tests
  • Joubert syndrome 219 tests
  • Joubert syndrome 225 tests
  • Joubert syndrome 249 tests
  • Joubert syndrome 252 tests
  • Joubert syndrome 261 test
  • Joubert syndrome 279 tests
  • Joubert syndrome 2810 tests
  • Joubert syndrome 39 tests
  • Joubert syndrome 303 tests
  • Joubert syndrome 311 test
  • Joubert syndrome 324 tests
  • Joubert syndrome 334 tests
  • Joubert syndrome 354 tests
  • Joubert syndrome 59 tests
  • Joubert syndrome 61 test
  • Joubert syndrome 811 tests
  • Joubert syndrome 91 test
  • Joubert syndrome with renal defect2 tests
  • Junctional epidermolysis bullosa gravis of Herlitz6 tests
  • Junctional epidermolysis bullosa with pyloric atresia5 tests
  • Junctional epidermolysis bullosa, non-Herlitz type1 test
  • Juvenile arthritis due to defect in LACC11 test
  • Juvenile cataract-microcornea-renal glucosuria syndrome2 tests
  • Juvenile myelomonocytic leukemia11 tests
  • Juvenile onset Parkinson disease 19A3 tests
  • Juvenile polyposis syndrome14 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome6 tests
  • Juvenile primary lateral sclerosis6 tests
  • Juvenile retinoschisis3 tests
  • Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome2 tests
  • Kabuki syndrome 18 tests
  • Kabuki syndrome 28 tests
  • Kahrizi syndrome6 tests
  • Kartagener syndrome10 tests
  • Karyomegalic interstitial nephritis5 tests
  • KBG syndrome3 tests
  • Keipert syndrome3 tests
  • Kell blood group system1 test
  • Kennedy disease2 tests
  • Keratitis fugax hereditaria1 test
  • Keratoderma with scleroatrophy of the extremities1 test
  • Keratoderma-ichthyosis-deafness syndrome, autosomal recessive1 test
  • Keratosis follicularis2 tests
  • Keratosis follicularis spinulosa decalvans, X-linked1 test
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome3 tests
  • Keratosis palmoplantaris striata 21 test
  • Keratosis palmoplantaris striata 32 tests
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency7 tests
  • Keutel syndrome6 tests
  • Kindler syndrome2 tests
  • KINSSHIP SYNDROME1 test
  • Kleefstra syndrome 14 tests
  • Kleefstra syndrome 25 tests
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome4 tests
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Kniest dysplasia1 test
  • Knobloch syndrome 11 test
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Koolen-de Vries syndrome2 tests
  • Kostmann syndrome7 tests
  • Krabbe disease, atypical, due to saposin A deficiency1 test
  • Kufor-Rakeb syndrome8 tests
  • Kugelberg-Welander disease3 tests
  • Kuru, susceptibility to2 tests
  • Kury-Isidor syndrome1 test
  • L-2-hydroxyglutaric aciduria5 tests
  • L-ferritin deficiency10 tests
  • Lafora disease5 tests
  • Lamb-Shaffer syndrome3 tests
  • Landau-Kleffner syndrome4 tests
  • Langer mesomelic dysplasia syndrome2 tests
  • Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia4 tests
  • Large congenital melanocytic nevus4 tests
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome1 test
  • Larsen-like syndrome, B3GAT3 type4 tests
  • Laryngo-onycho-cutaneous syndrome1 test
  • Late-onset retinal degeneration1 test
  • Lateral meningocele syndrome9 tests
  • Lathosterolosis3 tests
  • Laurence-Moon syndrome11 tests
  • Lazy leukocyte syndrome1 test
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 105 tests
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 124 tests
  • Leber congenital amaurosis 135 tests
  • Leber congenital amaurosis 144 tests
  • Leber congenital amaurosis 154 tests
  • Leber congenital amaurosis 164 tests
  • Leber congenital amaurosis 21 test
  • Leber congenital amaurosis 34 tests
  • Leber congenital amaurosis 44 tests
  • Leber congenital amaurosis 55 tests
  • Leber congenital amaurosis 64 tests
  • Leber congenital amaurosis 71 test
  • Leber congenital amaurosis 81 test
  • Leber congenital amaurosis 94 tests
  • Left ventricular noncompaction 12 tests
  • Left ventricular noncompaction 104 tests
  • Left ventricular noncompaction 74 tests
  • Left ventricular noncompaction 83 tests
  • Legg-Calve-Perthes disease1 test
  • Legius syndrome3 tests
  • Lenz-Majewski hyperostosis syndrome3 tests
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 35 tests
  • Leprechaunism syndrome2 tests
  • Leri-Weill dyschondrosteosis2 tests
  • Lesch-Nyhan syndrome5 tests
  • Lessel-kubisch syndrome1 test
  • Lethal acantholytic epidermolysis bullosa1 test
  • Lethal arthrogryposis-anterior horn cell disease syndrome1 test
  • Lethal congenital contracture syndrome 15 tests
  • Lethal congenital contracture syndrome 112 tests
  • Lethal congenital contracture syndrome 33 tests
  • Lethal congenital contracture syndrome 41 test
  • Lethal congenital contracture syndrome 71 test
  • Lethal congenital contracture syndrome 94 tests
  • Lethal congenital glycogen storage disease of heart1 test
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
  • Lethal Kniest-like syndrome7 tests
  • Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome3 tests
  • Lethal multiple pterygium syndrome8 tests
  • Lethal occipital encephalocele-skeletal dysplasia syndrome2 tests
  • Lethal osteosclerotic bone dysplasia4 tests
  • Lethal polymalformative syndrome, Boissel type2 tests
  • Lethal tight skin contracture syndrome1 test
  • Leucine-induced hypoglycemia1 test
  • Leukocyte adhesion deficiency 12 tests
  • Leukocyte adhesion deficiency 34 tests
  • Leukocyte adhesion deficiency type II6 tests
  • Leukodystrophy and acquired microcephaly with or without dystonia;3 tests
  • Leukodystrophy, hypomyelinating, 144 tests
  • Leukodystrophy, hypomyelinating, 154 tests
  • Leukodystrophy, hypomyelinating, 164 tests
  • Leukodystrophy, hypomyelinating, 174 tests
  • Leukodystrophy, hypomyelinating, 183 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome8 tests
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema5 tests
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate4 tests
  • Leukoencephalopathy, diffuse hereditary, with spheroids 17 tests
  • Leukoencephalopathy, hereditary diffuse, with spheroids 25 tests
  • Leukoencephalopathy, progressive, infantile-onset, with or without deafness1 test
  • Leukoencephalopathy, progressive, with ovarian failure8 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome7 tests
  • Levy-Hollister syndrome10 tests
  • Lewy body dementia5 tests
  • Leydig cell agenesis3 tests
  • Li-Fraumeni syndrome 18 tests
  • Li-Fraumeni syndrome 27 tests
  • Li-Ghorbani-Weisz-Hubshman syndrome3 tests
  • Liang-Wang syndrome1 test
  • Liddle syndrome 14 tests
  • Liddle syndrome 21 test
  • Liddle syndrome 31 test
  • Limb-girdle muscular dystrophy due to POMK deficiency7 tests
  • Limb-mammary syndrome1 test
  • Linear nevus sebaceous syndrome4 tests
  • Linear skin defects with multiple congenital anomalies 18 tests
  • Linear skin defects with multiple congenital anomalies 25 tests
  • Linear skin defects with multiple congenital anomalies 31 test
  • Lipase deficiency, combined4 tests
  • LIPE-related familial partial lipodystrophy3 tests
  • Lipid proteinosis1 test
  • Lipoic acid synthetase deficiency8 tests
  • Lipoprotein glomerulopathy1 test
  • LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS1 test
  • Lipoyl transferase 1 deficiency8 tests
  • Lissencephaly 41 test
  • Lissencephaly 6 with microcephaly4 tests
  • Lissencephaly 84 tests
  • Lissencephaly 9 with complex brainstem malformation4 tests
  • Lissencephaly due to LIS1 mutation6 tests
  • Lissencephaly due to TUBA1A mutation4 tests
  • Lissencephaly type 1 due to doublecortin gene mutation5 tests
  • Loeys-Dietz syndrome 21 test
  • Loeys-Dietz syndrome 43 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Long QT syndrome 13 tests
  • Long QT syndrome 102 tests
  • Long QT syndrome 113 tests
  • Long QT syndrome 124 tests
  • Long QT syndrome 134 tests
  • Long QT syndrome 152 tests
  • Long QT syndrome 162 tests
  • Long QT syndrome 22 tests
  • Long QT syndrome 31 test
  • Long QT syndrome 54 tests
  • Long QT syndrome 62 tests
  • Long qt syndrome 81 test
  • Long QT syndrome 91 test
  • Lopes-Maciel-Rodan syndrome1 test
  • Loricrin keratoderma2 tests
  • Low phospholipid associated cholelithiasis1 test
  • Lowe syndrome1 test
  • Lower motor neuron syndrome with late-adult onset3 tests
  • Lower urinary tract obstruction, congenital5 tests
  • Lucey-Driscoll syndrome1 test
  • Lung cancer18 tests
  • Lung disease, immunodeficiency, and chromosome breakage syndrome;4 tests
  • Luscan-Lumish syndrome5 tests
  • Lymphangiomyomatosis7 tests
  • Lymphatic malformation 36 tests
  • Lymphatic malformation 61 test
  • Lymphatic malformation 71 test
  • Lymphoma, non-Hodgkin, familial7 tests
  • Lymphoproliferative syndrome 14 tests
  • Lymphoproliferative syndrome 22 tests
  • Lynch syndrome3 tests
  • Lynch syndrome 17 tests
  • Lysinuric protein intolerance10 tests
  • Lysosomal acid lipase deficiency7 tests
  • Macrocephaly, acquired, with impaired intellectual development3 tests
  • Macrocephaly-autism syndrome2 tests
  • Macrocephaly-developmental delay syndrome3 tests
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome4 tests
  • Macroglobulinemia, Waldenstrom, 12 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss9 tests
  • Macrothrombocytopenia, isolated, 1, autosomal dominant3 tests
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome3 tests
  • Macular degeneration, age-related, 31 test
  • Macular degeneration, early-onset6 tests
  • Macular degeneration, X-linked atrophic1 test
  • Macular dystrophy with central cone involvement8 tests
  • Maffucci syndrome2 tests
  • Majeed syndrome3 tests
  • Malan overgrowth syndrome2 tests
  • Malaria, susceptibility to9 tests
  • Male infertility due to globozoospermia1 test
  • Maleylacetoacetate isomerase deficiency1 test
  • Maligant granulosa cell tumor of ovary1 test
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant tumor of esophagus7 tests
  • Malignant tumor of prostate23 tests
  • Malignant tumor of urinary bladder6 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome3 tests
  • Mandibuloacral dysplasia with type A lipodystrophy1 test
  • Mandibuloacral dysplasia with type B lipodystrophy3 tests
  • Mandibulofacial dysostosis-microcephaly syndrome4 tests
  • Mannose-binding lectin deficiency2 tests
  • Maple syrup urine disease12 tests
  • Maple syrup urine disease, mild variant1 test
  • Marden-Walker syndrome1 test
  • Marfan syndrome2 tests
  • Marinesco-Sjögren syndrome8 tests
  • Marshall syndrome2 tests
  • Marshall-Smith syndrome2 tests
  • Martsolf syndrome 19 tests
  • Martsolf syndrome 21 test
  • MASA syndrome1 test
  • MASS syndrome2 tests
  • Mast syndrome5 tests
  • Matthew-Wood syndrome9 tests
  • Maturity-onset diabetes of the young type 16 tests
  • Maturity-onset diabetes of the young type 101 test
  • Maturity-onset diabetes of the young type 113 tests
  • Maturity-onset diabetes of the young type 131 test
  • Maturity-onset diabetes of the young type 143 tests
  • Maturity-onset diabetes of the young type 26 tests
  • Maturity-onset diabetes of the young type 31 test
  • Maturity-onset diabetes of the young type 63 tests
  • Maturity-onset diabetes of the young type 73 tests
  • Maturity-onset diabetes of the young type 84 tests
  • Maturity-onset diabetes of the young type 91 test
  • McCune-Albright syndrome11 tests
  • McKusick-Kaufman syndrome1 test
  • McLeod neuroacanthocytosis syndrome4 tests
  • Meckel syndrome 131 test
  • Meckel syndrome 142 tests
  • Meckel syndrome, type 18 tests
  • Meckel syndrome, type 106 tests
  • Meckel syndrome, type 118 tests
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 47 tests
  • Meckel syndrome, type 510 tests
  • Meckel syndrome, type 61 test
  • Meckel syndrome, type 81 test
  • Meckel syndrome, type 91 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency8 tests
  • MEDNIK syndrome4 tests
  • Medulloblastoma23 tests
  • Meester-Loeys syndrome1 test
  • Megabladder, congenital3 tests
  • Megaconial type congenital muscular dystrophy4 tests
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 14 tests
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 24 tests
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 54 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 19 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A7 tests
  • Megalencephaly-capillary malformation-polymicrogyria syndrome2 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 26 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness10 tests
  • MEGF10-Related Myopathy5 tests
  • MEGF8-related Carpenter syndrome3 tests
  • MEHMO syndrome6 tests
  • Meier-Gorlin syndrome 15 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 71 test
  • Melanoma and neural system tumor syndrome6 tests
  • Melanoma, cutaneous malignant, susceptibility to, 12 tests
  • Melanoma, cutaneous malignant, susceptibility to, 102 tests
  • Melanoma, cutaneous malignant, susceptibility to, 27 tests
  • Melanoma, cutaneous malignant, susceptibility to, 33 tests
  • Melanoma, cutaneous malignant, susceptibility to, 52 tests
  • Melanoma, cutaneous malignant, susceptibility to, 62 tests
  • Melanoma, cutaneous malignant, susceptibility to, 83 tests
  • Melanoma, cutaneous malignant, susceptibility to, 92 tests
  • Melanoma, uveal, susceptibility to, 24 tests
  • Melanoma-pancreatic cancer syndrome6 tests
  • Melnick-Needles syndrome1 test
  • Melorheostosis6 tests
  • MEND syndrome1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency2 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency2 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency2 tests
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency3 tests
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency7 tests
  • Menke-Hennekam syndrome 11 test
  • Menke-Hennekam syndrome 24 tests
  • Menkes kinky-hair syndrome1 test
  • Meretoja syndrome1 test
  • Merosin deficient congenital muscular dystrophy1 test
  • Mesothelioma, malignant1 test
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression2 tests
  • Metabolic myopathy due to lactate transporter defect1 test
  • Metachondromatosis1 test
  • Metachromatic leukodystrophy9 tests
  • Metaphyseal anadysplasia 24 tests
  • Metaphyseal chondrodysplasia, Jansen type5 tests
  • Metaphyseal chondrodysplasia, Schmid type4 tests
  • Metaphyseal chondrodysplasia, Spahr type1 test
  • Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome4 tests
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome4 tests
  • Metatropic dysplasia1 test
  • Methemoglobinemia type 45 tests
  • Methemoglobinemia, alpha type2 tests
  • Methemoglobinemia, beta-globin type2 tests
  • Methylcobalamin deficiency type cblE1 test
  • Methylcobalamin deficiency type cblG7 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency4 tests
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency7 tests
  • Methylmalonic acidemia due to transcobalamin receptor defect5 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ5 tests
  • Methylmalonic acidemia with homocystinuria, type cblX7 tests
  • Methylmalonic aciduria and homocystinuria type cblD9 tests
  • Methylmalonic aciduria and homocystinuria type cblF6 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency11 tests
  • Methylmalonic aciduria, cblA type10 tests
  • Methylmalonic aciduria, cblB type10 tests
  • Mevalonic aciduria1 test
  • MGAT2-congenital disorder of glycosylation6 tests
  • MHC class I deficiency4 tests
  • MHC class II deficiency5 tests
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1 test
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type5 tests
  • Microcephalic osteodysplastic primordial dwarfism type II7 tests
  • Microcephalic primordial dwarfism due to RTTN deficiency4 tests
  • Microcephalic primordial dwarfism due to ZNF335 deficiency5 tests
  • Microcephalic primordial dwarfism, Alazami type1 test
  • Microcephaly 1, primary, autosomal recessive5 tests
  • Microcephaly 12, primary, autosomal recessive1 test
  • Microcephaly 14, primary, autosomal recessive4 tests
  • Microcephaly 15, primary, autosomal recessive4 tests
  • Microcephaly 16, primary, autosomal recessive3 tests
  • Microcephaly 17, primary, autosomal recessive4 tests
  • Microcephaly 18, primary, autosomal dominant3 tests
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations5 tests
  • Microcephaly 20, primary, autosomal recessive6 tests
  • Microcephaly 22, primary, autosomal recessive4 tests
  • Microcephaly 26, primary, autosomal dominant6 tests
  • Microcephaly 3, primary, autosomal recessive5 tests
  • Microcephaly 4, primary, autosomal recessive4 tests
  • Microcephaly 5, primary, autosomal recessive5 tests
  • Microcephaly 6, primary, autosomal recessive8 tests
  • Microcephaly 7, primary, autosomal recessive5 tests
  • Microcephaly 8, primary, autosomal recessive4 tests
  • Microcephaly 9, primary, autosomal recessive1 test
  • Microcephaly and chorioretinopathy 14 tests
  • Microcephaly and chorioretinopathy 24 tests
  • Microcephaly and chorioretinopathy 34 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability5 tests
  • Microcephaly, epilepsy, and diabetes syndrome 18 tests
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome2 tests
  • Microcephaly, growth deficiency, seizures, and brain malformations1 test
  • Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
  • Microcephaly, normal intelligence and immunodeficiency9 tests
  • Microcephaly, seizures, and developmental delay1 test
  • Microcephaly, short stature, and impaired glucose metabolism 16 tests
  • Microcephaly, short stature, and impaired glucose metabolism 22 tests
  • Microcephaly-capillary malformation syndrome5 tests
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome5 tests
  • Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome5 tests
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome4 tests
  • Microcephaly-thin corpus callosum-intellectual disability syndrome3 tests
  • Microcornea-myopic chorioretinal atrophy2 tests
  • Microphthalmia with brain and digit anomalies1 test
  • Microphthalmia with limb anomalies3 tests
  • Microphthalmia, isolated, with coloboma 101 test
  • Microphthalmia, isolated, with coloboma 33 tests
  • Microphthalmia, isolated, with coloboma 63 tests
  • Microphthalmia, isolated, with coloboma 71 test
  • Microphthalmia, isolated, with coloboma 93 tests
  • Microphthalmia, syndromic 15 tests
  • Microphthalmia, syndromic 124 tests
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma1 test
  • Microvascular complications of diabetes, susceptibility to, 11 test
  • Microvascular complications of diabetes, susceptibility to, 41 test
  • Microvascular complications of diabetes, susceptibility to, 53 tests
  • Microvascular complications of diabetes, susceptibility to, 63 tests
  • Microvascular complications of diabetes, susceptibility to, 78 tests
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis4 tests
  • Migraine with or without aura, susceptibility to, 11 test
  • Migraine, familial hemiplegic, 12 tests
  • Migraine, familial hemiplegic, 21 test
  • Migraine, familial hemiplegic, 32 tests
  • Miller Dieker syndrome3 tests
  • Miller syndrome4 tests
  • MIRAGE syndrome1 test
  • Mirror movements 12 tests
  • Mismatch repair cancer syndrome 29 tests
  • Mismatch repair cancer syndrome 39 tests
  • Mismatch repair cancer syndrome 410 tests
  • Mitchell syndrome7 tests
  • Mitochondrial complex 1 deficiency, nuclear type 108 tests
  • Mitochondrial complex 1 deficiency, nuclear type 118 tests
  • Mitochondrial complex 1 deficiency, nuclear type 129 tests
  • Mitochondrial complex 1 deficiency, nuclear type 138 tests
  • Mitochondrial complex 1 deficiency, nuclear type 148 tests
  • Mitochondrial complex 1 deficiency, nuclear type 158 tests
  • Mitochondrial complex 1 deficiency, nuclear type 168 tests
  • Mitochondrial complex 1 deficiency, nuclear type 171 test
  • Mitochondrial complex 1 deficiency, nuclear type 187 tests
  • Mitochondrial complex 1 deficiency, nuclear type 198 tests
  • Mitochondrial complex 1 deficiency, nuclear type 27 tests
  • Mitochondrial complex 1 deficiency, nuclear type 218 tests
  • Mitochondrial complex 1 deficiency, nuclear type 228 tests
  • Mitochondrial complex 1 deficiency, nuclear type 237 tests
  • Mitochondrial complex 1 deficiency, nuclear type 244 tests
  • Mitochondrial complex 1 deficiency, nuclear type 257 tests
  • Mitochondrial complex 1 deficiency, nuclear type 268 tests
  • Mitochondrial complex 1 deficiency, nuclear type 277 tests
  • Mitochondrial complex 1 deficiency, nuclear type 292 tests
  • Mitochondrial complex 1 deficiency, nuclear type 38 tests
  • Mitochondrial complex 1 deficiency, nuclear type 303 tests
  • Mitochondrial complex 1 deficiency, nuclear type 313 tests
  • Mitochondrial complex 1 deficiency, nuclear type 323 tests
  • Mitochondrial complex 1 deficiency, nuclear type 333 tests
  • Mitochondrial complex 1 deficiency, nuclear type 48 tests
  • Mitochondrial complex 1 deficiency, nuclear type 58 tests
  • Mitochondrial complex 1 deficiency, nuclear type 68 tests
  • Mitochondrial complex 1 deficiency, nuclear type 78 tests
  • Mitochondrial complex 1 deficiency, nuclear type 88 tests
  • Mitochondrial complex 1 deficiency, nuclear type 98 tests
  • Mitochondrial complex 2 deficiency, nuclear type 21 test
  • Mitochondrial complex 2 deficiency, nuclear type 31 test
  • Mitochondrial complex 2 deficiency, nuclear type 41 test
  • Mitochondrial complex 4 deficiency, nuclear type 103 tests
  • Mitochondrial complex 4 deficiency, nuclear type 118 tests
  • Mitochondrial complex 4 deficiency, nuclear type 128 tests
  • Mitochondrial complex 4 deficiency, nuclear type 177 tests
  • Mitochondrial complex 4 deficiency, nuclear type 37 tests
  • Mitochondrial complex 4 deficiency, nuclear type 48 tests
  • Mitochondrial complex 4 deficiency, nuclear type 78 tests
  • Mitochondrial complex 4 deficiency, nuclear type 88 tests
  • Mitochondrial complex I deficiency, nuclear type 18 tests
  • Mitochondrial complex II deficiency, nuclear type 18 tests
  • Mitochondrial complex III deficiency nuclear type 113 tests
  • Mitochondrial complex III deficiency nuclear type 26 tests
  • Mitochondrial complex III deficiency nuclear type 35 tests
  • Mitochondrial complex III deficiency nuclear type 47 tests
  • Mitochondrial complex III deficiency nuclear type 56 tests
  • Mitochondrial complex III deficiency nuclear type 64 tests
  • Mitochondrial complex III deficiency nuclear type 75 tests
  • Mitochondrial complex III deficiency nuclear type 87 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 210 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 33 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 41 test
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 16 tests
  • Mitochondrial disease1 test
  • Mitochondrial DNA deletion syndrome with progressive myopathy8 tests
  • Mitochondrial DNA depletion syndrome 18 tests
  • Mitochondrial DNA depletion syndrome 117 tests
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
  • Mitochondrial DNA depletion syndrome 1310 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 16 (hepatic type)1 test
  • Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)1 test
  • Mitochondrial DNA depletion syndrome 312 tests
  • Mitochondrial DNA depletion syndrome 4b1 test
  • Mitochondrial DNA depletion syndrome 8a2 tests
  • Mitochondrial DNA depletion syndrome 99 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria10 tests
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency6 tests
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy8 tests
  • Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome4 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome3 tests
  • Mitochondrial pyruvate carrier deficiency6 tests
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency7 tests
  • Mitochondrial trifunctional protein deficiency10 tests
  • Mitral valve prolapse, myxomatous 22 tests
  • Miyoshi muscular dystrophy 15 tests
  • Miyoshi muscular dystrophy 37 tests
  • MOGS-congenital disorder of glycosylation6 tests
  • Monocytopenia with susceptibility to infections5 tests
  • Monosomy 7 myelodysplasia and leukemia syndrome 12 tests
  • Monosomy 7 myelodysplasia and leukemia syndrome 21 test
  • Mosaic variegated aneuploidy syndrome 11 test
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mosaic variegated aneuploidy syndrome 31 test
  • Mowat-Wilson syndrome7 tests
  • Moyamoya disease 51 test
  • Moyamoya disease with early-onset achalasia2 tests
  • MPDU1-congenital disorder of glycosylation5 tests
  • MPI-congenital disorder of glycosylation7 tests
  • Mucolipidosis type II7 tests
  • Mucolipidosis type III gamma6 tests
  • Mucolipidosis type IV6 tests
  • Mucopolysaccharidosis6 tests
  • Mucopolysaccharidosis type 65 tests
  • Mucopolysaccharidosis type 75 tests
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-II7 tests
  • Mucopolysaccharidosis, MPS-III-A6 tests
  • Mucopolysaccharidosis, MPS-III-B5 tests
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-III-D6 tests
  • Mucopolysaccharidosis, MPS-IV-A5 tests
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Muenke syndrome1 test
  • Muir-Torré syndrome9 tests
  • Mulibrey nanism syndrome2 tests
  • Mullegama-Klein-Martinez syndrome1 test
  • Mullerian aplasia and hyperandrogenism3 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy3 tests
  • Multicentric osteolysis, nodulosis, and arthropathy1 test
  • Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome3 tests
  • Multiple acyl-CoA dehydrogenase deficiency13 tests
  • Multiple benign circumferential skin creases on limbs 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 14 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 26 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
  • Multiple cutaneous and mucosal venous malformations2 tests
  • Multiple endocrine neoplasia type 43 tests
  • Multiple endocrine neoplasia, type 16 tests
  • Multiple endocrine neoplasia, type 2a5 tests
  • Multiple endocrine neoplasia, type 2b5 tests
  • Multiple epiphyseal dysplasia type 11 test
  • Multiple epiphyseal dysplasia type 41 test
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple epiphyseal dysplasia, Al-Gazali type2 tests
  • Multiple fibrofolliculomas4 tests
  • Multiple mitochondrial dysfunctions syndrome 19 tests
  • Multiple mitochondrial dysfunctions syndrome 28 tests
  • Multiple mitochondrial dysfunctions syndrome 35 tests
  • Multiple mitochondrial dysfunctions syndrome 47 tests
  • Multiple mitochondrial dysfunctions syndrome 53 tests
  • Multiple mitochondrial dysfunctions syndrome 65 tests
  • Multiple myeloma2 tests
  • Multiple sclerosis, susceptibility to3 tests
  • Multiple sclerosis, susceptibility to, 52 tests
  • Multiple self-healing squamous epithelioma3 tests
  • Multiple sulfatase deficiency8 tests
  • Multiple synostoses syndrome 21 test
  • Multiple system atrophy 1, susceptibility to10 tests
  • Multisystemic smooth muscle dysfunction syndrome5 tests
  • Mungan syndrome3 tests
  • Muscle AMP deaminase deficiency6 tests
  • Muscular dystrophy, limb-girdle, autosomal dominant 41 test
  • Muscular dystrophy, limb-girdle, autosomal recessive 239 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 106 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 116 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 48 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 86 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A135 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A27 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A69 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 156 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B18 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 81 test
  • Muscular dystrophy-dystroglycanopathy type B61 test
  • Mutilating keratoderma1 test
  • Myasthenic syndrome, congenital, 1B, fast-channel1 test
  • Myasthenic syndrome, congenital, 224 tests
  • Myasthenic syndrome, congenital, 23, presynaptic4 tests
  • Myasthenic syndrome, congenital, 24, presynaptic4 tests
  • Myasthenic syndrome, congenital, 25, presynaptic1 test
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive1 test
  • Mycobacterium tuberculosis, susceptibility to2 tests
  • Myelodysplastic syndrome11 tests
  • Myelodysplastic syndrome associated with isolated del(5q)3 tests
  • Myelofibrosis3 tests
  • Myeloproliferative disorder, chronic, with eosinophilia3 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
  • MYH7-related skeletal myopathy4 tests
  • Myhre syndrome2 tests
  • Myocardial infarction, susceptibility to6 tests
  • Myoclonic dystonia 113 tests
  • Myoclonic dystonia 261 test
  • Myoclonic epilepsy, juvenile, susceptibility to, 13 tests
  • Myoclonic-atonic epilepsy5 tests
  • Myoclonus, familial, 21 test
  • Myoclonus, intractable, neonatal1 test
  • Myofibrillar myopathy 21 test
  • Myofibrillar myopathy 31 test
  • Myofibrillar myopathy 41 test
  • Myofibrillar myopathy 65 tests
  • Myofibrillar myopathy 73 tests
  • Myofibrillar myopathy 83 tests
  • Myofibromatosis, infantile, 13 tests
  • Myofibromatosis, infantile, 23 tests
  • Myoglobinuria, acute recurrent, autosomal recessive5 tests
  • Myopathy due to calsequestrin and SERCA1 protein overload3 tests
  • Myopathy with abnormal lipid metabolism7 tests
  • Myopathy, centronuclear, 25 tests
  • Myopathy, centronuclear, 54 tests
  • Myopathy, congenital proximal, with minicore lesions1 test
  • Myopathy, congenital, progressive, with scoliosis1 test
  • Myopathy, congenital, with respiratory insufficiency and bone fractures1 test
  • Myopathy, congenital, with structured cores and z-line abnormalities1 test
  • Myopathy, congenital, with tremor4 tests
  • Myopathy, distal, 6, adult-onset, autosomal dominant2 tests
  • Myopathy, distal, 7, adult-onset, X-linked1 test
  • Myopathy, epilepsy, and progressive cerebral atrophy4 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 14 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 26 tests
  • MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY1 test
  • Myopathy, myofibrillar, 9, with early respiratory failure5 tests
  • Myopathy, myosin storage, autosomal recessive1 test
  • Myopathy, proximal, and ophthalmoplegia4 tests
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe4 tests
  • Myopathy, tubular aggregate, 11 test
  • Myopia 25, autosomal dominant3 tests
  • Myopia 61 test
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosclerosis5 tests
  • Myosin storage myopathy1 test
  • Myostatin-related muscle hypertrophy1 test
  • Myotonic dystrophy type 22 tests
  • MYPN-related myopathy4 tests
  • NAD(P)HX dehydratase deficiency3 tests
  • Naegeli-Franceschetti-Jadassohn syndrome1 test
  • Nager syndrome2 tests
  • Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome1 test
  • Nail-patella syndrome1 test
  • Nail-patella-like renal disease7 tests
  • Namaqualand hip dysplasia1 test
  • Nance-Horan syndrome3 tests
  • Nanophthalmos 25 tests
  • Nasopharyngeal carcinoma4 tests
  • Navajo neurohepatopathy13 tests
  • Naxos disease3 tests
  • NDE1-related microhydranencephaly5 tests
  • NEK9-related lethal skeletal dysplasia2 tests
  • Nemaline myopathy 14 tests
  • Nemaline myopathy 104 tests
  • Nemaline myopathy 25 tests
  • Nemaline myopathy 45 tests
  • Nemaline myopathy 55 tests
  • Nemaline myopathy 65 tests
  • Nemaline myopathy 75 tests
  • Nemaline myopathy 85 tests
  • Nemaline myopathy 95 tests
  • Neonatal acute respiratory distress due to SP-B deficiency3 tests
  • Neonatal diabetes mellitus with congenital hypothyroidism5 tests
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome5 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Neonatal pseudo-hydrocephalic progeroid syndrome7 tests
  • Neonatal severe primary hyperparathyroidism2 tests
  • Neonatal-onset encephalopathy with rigidity and seizures5 tests
  • Neoplasm of ovary7 tests
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephronophthisis 12 tests
  • Nephronophthisis 1111 tests
  • Nephronophthisis 1210 tests
  • Nephronophthisis 131 test
  • Nephronophthisis 148 tests
  • Nephronophthisis 158 tests
  • Nephronophthisis 165 tests
  • Nephronophthisis 183 tests
  • Nephronophthisis 191 test
  • Nephronophthisis 203 tests
  • Nephronophthisis 31 test
  • Nephronophthisis 44 tests
  • Nephronophthisis 73 tests
  • Nephronophthisis 94 tests
  • Nephronophthisis-like nephropathy 15 tests
  • Nephropathic cystinosis9 tests
  • Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome1 test
  • Nephrotic syndrome 144 tests
  • Nephrotic syndrome 153 tests
  • Nephrotic syndrome 161 test
  • Nephrotic syndrome, type 103 tests
  • Nephrotic syndrome, type 111 test
  • Nephrotic syndrome, type 123 tests
  • Nephrotic syndrome, type 181 test
  • Nephrotic syndrome, type 24 tests
  • Nephrotic syndrome, type 33 tests
  • Nephrotic syndrome, type 43 tests
  • Nephrotic syndrome, type 63 tests
  • Nephrotic syndrome, type 83 tests
  • Nephrotic syndrome, type 97 tests
  • Netherton syndrome4 tests
  • Neu-Laxova syndrome 16 tests
  • Neu-Laxova syndrome 21 test
  • Neural tube defect2 tests
  • Neural tube defects, folate-sensitive10 tests
  • Neuroblastoma, susceptibility to, 15 tests
  • Neuroblastoma, susceptibility to, 26 tests
  • Neuroblastoma, susceptibility to, 31 test
  • Neurocirculatory asthenia1 test
  • Neurocutaneous melanocytosis3 tests
  • Neurodegeneration with ataxia and late-onset optic atrophy3 tests
  • Neurodegeneration with brain iron accumulation 2B1 test
  • Neurodegeneration with brain iron accumulation 41 test
  • Neurodegeneration with brain iron accumulation 59 tests
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1 test
  • Neurodegeneration, childhood-onset, with cerebellar atrophy4 tests
  • Neurodevelopmental disorder and language delay with or without structural brain abnormalities3 tests
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity3 tests
  • Neurodevelopmental disorder with absent language and variable seizures3 tests
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter4 tests
  • Neurodevelopmental disorder with central hypotonia and dysmorphic facies2 tests
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1 test
  • Neurodevelopmental disorder with dysmorphic facies and variable seizures4 tests
  • Neurodevelopmental disorder with epilepsy and hemochromatosis3 tests
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination3 tests
  • Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy3 tests
  • NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA2 tests
  • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements2 tests
  • Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation3 tests
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness2 tests
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language3 tests
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia4 tests
  • NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES2 tests
  • Neurodevelopmental disorder with impaired speech and hyperkinetic movements3 tests
  • Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies1 test
  • Neurodevelopmental disorder with involuntary movements4 tests
  • Neurodevelopmental disorder with language impairment and behavioral abnormalities3 tests
  • Neurodevelopmental disorder with microcephaly and dysmorphic facies1 test
  • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies3 tests
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity3 tests
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination3 tests
  • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy3 tests
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1 test
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart3 tests
  • Neurodevelopmental disorder with or without autism or seizures5 tests
  • Neurodevelopmental disorder with or without early-onset generalized epilepsy3 tests
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1 test
  • Neurodevelopmental disorder with or without seizures and gait abnormalities3 tests
  • Neurodevelopmental disorder with poor language and loss of hand skills1 test
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies4 tests
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures4 tests
  • Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies1 test
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
  • Neurodevelopmental disorder with seizures and speech and walking impairment3 tests
  • Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1 test
  • Neurodevelopmental disorder with severe motor impairment and absent language3 tests
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures6 tests
  • Neurodevelopmental disorder with speech impairment and dysmorphic facies1 test
  • Neurodevelopmental disorder with visual defects and brain anomalies4 tests
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1 test
  • Neurodevelopmental, jaw, eye, and digital syndrome2 tests
  • Neuroferritinopathy1 test
  • Neurofibromatosis, familial spinal6 tests
  • Neurofibromatosis, type 16 tests
  • Neurofibromatosis, type 24 tests
  • Neurofibromatosis-Noonan syndrome13 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type5 tests
  • Neurohypophyseal diabetes insipidus2 tests
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 14 tests
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 23 tests
  • Neuronal ceroid lipofuscinosis7 tests
  • Neuronal ceroid lipofuscinosis 18 tests
  • Neuronal ceroid lipofuscinosis 108 tests
  • Neuronal ceroid lipofuscinosis 111 test
  • Neuronal ceroid lipofuscinosis 134 tests
  • Neuronal ceroid lipofuscinosis 21 test
  • Neuronal ceroid lipofuscinosis 39 tests
  • Neuronal ceroid lipofuscinosis 510 tests
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant9 tests
  • Neuronopathy, distal hereditary motor, type 2A1 test
  • Neuronopathy, distal hereditary motor, type 2B1 test
  • Neuronopathy, distal hereditary motor, type 2C3 tests
  • Neuronopathy, distal hereditary motor, type 2D3 tests
  • Neuronopathy, distal hereditary motor, type 5A7 tests
  • Neuronopathy, distal hereditary motor, type 5B7 tests
  • Neuronopathy, distal hereditary motor, type 5C8 tests
  • Neuronopathy, distal hereditary motor, type 7A1 test
  • Neuronopathy, distal hereditary motor, type 7B1 test
  • Neurooculocardiogenitourinary syndrome3 tests
  • Neuropathy, congenital hypomyelinating, 21 test
  • Neuropathy, congenital hypomyelinating, 35 tests
  • Neuropathy, hereditary motor and sensory, type 6A1 test
  • Neuropathy, hereditary motor and sensory, type 6B6 tests
  • Neuropathy, hereditary sensory and autonomic, type 1A2 tests
  • Neuropathy, hereditary sensory and autonomic, type 1C4 tests
  • Neuropathy, hereditary sensory and autonomic, type 2A1 test
  • Neuropathy, hereditary sensory and autonomic, type 2B2 tests
  • Neuropathy, hereditary sensory, type 1D6 tests
  • Neuropathy, hereditary sensory, type 2C1 test
  • Neutral 1 amino acid transport defect4 tests
  • Neutral lipid storage myopathy3 tests
  • Neutropenia, severe congenital, 1, autosomal dominant4 tests
  • Neutropenia, severe congenital, 2, autosomal dominant1 test
  • Neutropenia, severe congenital, 8, autosomal dominant2 tests
  • Neutropenia, severe congenital, 9, autosomal dominant10 tests
  • Neutrophil immunodeficiency syndrome3 tests
  • Nevus comedonicus syndrome1 test
  • Newfoundland cone-rod dystrophy1 test
  • Nicolaides-Baraitser syndrome3 tests
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B12 tests
  • Niemann-Pick disease, type C113 tests
  • Niemann-Pick disease, type C212 tests
  • Night blindness, congenital stationary, type1i1 test
  • Nijmegen breakage syndrome-like disorder6 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities6 tests
  • Non-ketotic hyperglycinemia9 tests
  • Non-syndromic X-linked intellectual disability2 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to4 tests
  • Nonimmune chronic idiopathic neutropenia of adults3 tests
  • Nonpapillary renal cell carcinoma15 tests
  • Nonpersistence of intestinal lactase3 tests
  • Nonprogressive cerebellar atxia with intellectual disability6 tests
  • Nonsyndromic congenital nail disorder 12 tests
  • Nonsyndromic congenital nail disorder 81 test
  • Noonan syndrome1 test
  • Noonan syndrome 111 tests
  • Noonan syndrome 105 tests
  • Noonan syndrome 113 tests
  • Noonan syndrome 131 test
  • Noonan syndrome 21 test
  • Noonan syndrome 35 tests
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 64 tests
  • Noonan syndrome 86 tests
  • Noonan syndrome 93 tests
  • Noonan syndrome-like disorder with loose anagen hair 15 tests
  • Noonan syndrome-like disorder with loose anagen hair 23 tests
  • Norman-Roberts syndrome1 test
  • Normophosphatemic familial tumoral calcinosis5 tests
  • Norum disease1 test
  • NPHP3-related Meckel-like syndrome1 test
  • Null pituitary adenoma1 test
  • Nystagmus 1, congenital, X-linked1 test
  • O'Donnell-Luria-Rodan syndrome3 tests
  • Obesity10 tests
  • OBESITY (BMIQ12), SUSCEPTIBILITY TO5 tests
  • Obesity due to CEP19 deficiency2 tests
  • Obesity due to congenital leptin deficiency8 tests
  • Obesity due to leptin receptor gene deficiency5 tests
  • Obesity due to pro-opiomelanocortin deficiency1 test
  • Obesity due to prohormone convertase I deficiency1 test
  • Obesity due to SIM1 deficiency1 test
  • Obesity, hyperphagia, and developmental delay2 tests
  • Obsessive-compulsive disorder1 test
  • Occipital pachygyria and polymicrogyria2 tests
  • Occult macular dystrophy1 test
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II1 test
  • Ocular cystinosis1 test
  • Oculoauricular syndrome2 tests
  • Oculocerebrofacial syndrome, Kaufman type3 tests
  • Oculocutaneous albinism type 1B7 tests
  • Oculocutaneous albinism type 33 tests
  • Oculocutaneous albinism type 41 test
  • Oculocutaneous albinism type 63 tests
  • Oculocutaneous albinism type 72 tests
  • Oculofaciocardiodental syndrome7 tests
  • Oculomaxillofacial dysostosis1 test
  • Oculootoradial syndrome1 test
  • Oculopharyngeal muscular dystrophy1 test
  • Oculotrichoanal syndrome1 test
  • Odonto-onycho-dermal dysplasia1 test
  • Ogden syndrome4 tests
  • Oguchi disease-12 tests
  • Oligoastrocytoma2 tests
  • Oligodendroglioma2 tests
  • Olmsted syndrome 11 test
  • Olmsted syndrome, X-linked1 test
  • Oocyte maturation defect 22 tests
  • Oocyte maturation defect 42 tests
  • Oocyte maturation defect 52 tests
  • Oocyte maturation defect 62 tests
  • Oocyte maturation defect 72 tests
  • Opsismodysplasia3 tests
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures4 tests
  • Optic atrophy 122 tests
  • Optic atrophy 311 tests
  • Optic atrophy 51 test
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
  • Optic nerve hypoplasia, bilateral1 test
  • Ornithine aminotransferase deficiency6 tests
  • Ornithine carbamoyltransferase deficiency11 tests
  • Orofacial cleft 116 tests
  • Orofacial cleft 151 test
  • Orofacial cleft 52 tests
  • Orofacial cleft 6, susceptibility to1 test
  • Orofacial cleft 81 test
  • Orofacial-digital syndrome IV9 tests
  • Orofaciodigital syndrome 164 tests
  • Orofaciodigital syndrome I12 tests
  • Orofaciodigital syndrome type 144 tests
  • Orofaciodigital syndrome type 63 tests
  • Orofaciodigital syndrome V4 tests
  • Orotic aciduria6 tests
  • Osteoarthritis susceptibility 24 tests
  • Osteoarthritis susceptibility 51 test
  • Osteocraniostenosis2 tests
  • Osteofibrous dysplasia4 tests
  • Osteogenesis imperfecta type 105 tests
  • Osteogenesis imperfecta type 111 test
  • Osteogenesis imperfecta type 124 tests
  • Osteogenesis imperfecta type 135 tests
  • Osteogenesis imperfecta type 142 tests
  • Osteogenesis imperfecta type 151 test
  • Osteogenesis imperfecta type 164 tests
  • Osteogenesis imperfecta type 174 tests
  • Osteogenesis imperfecta type 55 tests
  • Osteogenesis imperfecta type 65 tests
  • Osteogenesis imperfecta type 75 tests
  • Osteogenesis imperfecta type 85 tests
  • Osteogenesis imperfecta type 95 tests
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III2 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form2 tests
  • Osteogenesis imperfecta, recessive perinatal lethal8 tests
  • Osteogenesis imperfecta, type 184 tests
  • Osteogenesis imperfecta, type 191 test
  • Osteogenesis imperfecta, type 202 tests
  • Osteoglophonic dysplasia1 test
  • Osteopathia striata with cranial sclerosis5 tests
  • Osteopetrosis with renal tubular acidosis6 tests
  • Osteopetrosis, autosomal dominant 31 test
  • Osteoporosis2 tests
  • OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO7 tests
  • Otitis media, susceptibility to1 test
  • Oto-palato-digital syndrome, type I8 tests
  • Oto-palato-digital syndrome, type II1 test
  • Otofaciocervical syndrome 11 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 22 tests
  • Ovarian dysgenesis 32 tests
  • Ovarian dysgenesis 63 tests
  • Ovarian dysgenesis 71 test
  • Ovarian hyperstimulation syndrome2 tests
  • Overhydrated hereditary stomatocytosis1 test
  • Oxoglutaricaciduria3 tests
  • Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome1 test
  • Pallister-Hall syndrome1 test
  • Palmoplantar keratoderma i, striate, focal, or diffuse1 test
  • Palmoplantar keratoderma, Nagashima type1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome2 tests
  • Pancreatic agenesis 23 tests
  • Pancreatic cancer, susceptibility to, 212 tests
  • Pancreatic cancer, susceptibility to, 37 tests
  • Pancreatic cancer, susceptibility to, 412 tests
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome3 tests
  • Pancreatic insufficiency-anemia-hyperostosis syndrome3 tests
  • Pancreatic insulin-producing neuroendocrine tumor1 test
  • Pancreatic triacylglycerol lipase deficiency1 test
  • Pancytopenia due to IKZF1 mutations3 tests
  • Pancytopenia-developmental delay syndrome2 tests
  • Papillon-Lefèvre syndrome5 tests
  • Paragangliomas 13 tests
  • Paragangliomas 25 tests
  • Paragangliomas 33 tests
  • Paragangliomas 43 tests
  • Paragangliomas 52 tests
  • Paramyotonia congenita of Von Eulenburg1 test
  • Parastremmatic dwarfism1 test
  • Parathyroid carcinoma2 tests
  • Parietal foramina 21 test
  • Parkinson disease 11, autosomal dominant, susceptibility to4 tests
  • Parkinson disease 13, autosomal dominant, susceptibility to1 test
  • Parkinson disease 172 tests
  • Parkinson disease 18, autosomal dominant, susceptibility to3 tests
  • Parkinson disease 22, autosomal dominant3 tests
  • PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO1 test
  • Parkinson disease 5, autosomal dominant, susceptibility to1 test
  • Parkinson disease, late-onset9 tests
  • Parkinsonian-pyramidal syndrome3 tests
  • Parkinsonism-dystonia 3, childhood-onset5 tests
  • Parkinsonism-dystonia, infantile, 15 tests
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal nocturnal hemoglobinuria 24 tests
  • Paroxysmal nonkinesigenic dyskinesia 14 tests
  • Partial albinism9 tests
  • Partial androgen insensitivity syndrome3 tests
  • Partial chromosome Y deletion1 test
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Partington syndrome1 test
  • Patent ductus arteriosus 21 test
  • Patterned macular dystrophy 11 test
  • Patterned macular dystrophy 23 tests
  • PCWH syndrome1 test
  • Peeling skin syndrome 11 test
  • Peeling skin syndrome 42 tests
  • Peeling skin syndrome 52 tests
  • Peeling skin syndrome 62 tests
  • Peeling skin syndrome type A2 tests
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome1 test
  • PEHO-like syndrome3 tests
  • Pelger-Huet-like anomaly and episodic fever with abdominal pain1 test
  • Pelger-Huët anomaly1 test
  • Pelizaeus-Merzbacher disease1 test
  • Pelviscapular dysplasia5 tests
  • Pendred syndrome1 test
  • PERCHING syndrome1 test
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • Periodontitis, aggressive 11 test
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive4 tests
  • Periventricular nodular heterotopia 73 tests
  • Perlman syndrome2 tests
  • Permanent neonatal diabetes mellitus 11 test
  • Peroxisome biogenesis disorder 10B6 tests
  • Peroxisome biogenesis disorder 11A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 14B6 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 1B3 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A (Zellweger)10 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4B1 test
  • Peroxisome biogenesis disorder 5A (Zellweger)13 tests
  • Peroxisome biogenesis disorder 5B1 test
  • Peroxisome biogenesis disorder 6B11 tests
  • Peroxisome biogenesis disorder 7A (Zellweger)1 test
  • Peroxisome biogenesis disorder 7B11 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)1 test
  • Peroxisome biogenesis disorder 8B7 tests
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorder type 3B1 test
  • Perrault syndrome 11 test
  • Perrault syndrome 25 tests
  • Perrault syndrome 38 tests
  • Perrault syndrome 47 tests
  • Perrault syndrome 51 test
  • Perrault syndrome 62 tests
  • Perry syndrome1 test
  • Persistent hyperplastic primary vitreous, autosomal recessive1 test
  • Persistent Mullerian duct syndrome3 tests
  • Peters plus syndrome5 tests
  • Pettigrew syndrome5 tests
  • Peutz-Jeghers syndrome6 tests
  • Pfeiffer syndrome2 tests
  • PGM1-congenital disorder of glycosylation9 tests
  • PHARC syndrome5 tests
  • Phenylketonuria9 tests
  • Pheochromocytoma15 tests
  • PHGDH deficiency1 test
  • PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome4 tests
  • Phosphate transport defect1 test
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
  • Phosphoribosylpyrophosphate synthetase superactivity8 tests
  • Phytanic acid storage disease10 tests
  • Pick disease2 tests
  • Pierpont syndrome2 tests
  • Pierson syndrome4 tests
  • Pigmentary pallidal degeneration9 tests
  • Pigmentary retinal dystrophy9 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented nodular adrenocortical disease, primary, 22 tests
  • Pigmented nodular adrenocortical disease, primary, 34 tests
  • Pigmented paravenous retinochoroidal atrophy5 tests
  • Pilarowski-Bjornsson syndrome3 tests
  • Pili torti-deafness syndrome1 test
  • Pilomatrixoma2 tests
  • Pilomyxoid astrocytoma1 test
  • Pineal hyperplasia AND diabetes mellitus syndrome1 test
  • Pitt-Hopkins syndrome5 tests
  • Pitt-Hopkins-like syndrome 24 tests
  • Pituitary adenoma 3, multiple types3 tests
  • Pituitary adenoma 5, multiple types3 tests
  • Pituitary adenoma, growth hormone-secreting, 21 test
  • Pituitary dependent hypercortisolism4 tests
  • Pituitary hormone deficiency, combined, 16 tests
  • Pituitary hormone deficiency, combined, 26 tests
  • Pituitary hormone deficiency, combined, 66 tests
  • Pituitary null cell adenoma1 test
  • Pituitary stalk interruption syndrome2 tests
  • Pityriasis rubra pilaris2 tests
  • Plasminogen deficiency, type I2 tests
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease3 tests
  • Platelet-type bleeding disorder 101 test
  • Platelet-type bleeding disorder 111 test
  • Platelet-type bleeding disorder 153 tests
  • Platelet-type bleeding disorder 164 tests
  • Platelet-type bleeding disorder 173 tests
  • Platelet-type bleeding disorder 203 tests
  • Platelet-type bleeding disorder 82 tests
  • Platyspondylic dysplasia, Torrance type1 test
  • Pleuropulmonary blastoma3 tests
  • PLIN1-related familial partial lipodystrophy1 test
  • PMM2-congenital disorder of glycosylation12 tests
  • Poikiloderma with neutropenia3 tests
  • Poirier-Bienvenu neurodevelopmental syndrome3 tests
  • Polycystic kidney disease 26 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease3 tests
  • Polycystic kidney disease 46 tests
  • Polycystic kidney disease 53 tests
  • Polycystic kidney disease 6 with or without polycystic liver disease3 tests
  • Polycystic kidney disease, adult type3 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 16 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 25 tests
  • Polycystic liver disease 13 tests
  • Polycystic liver disease 23 tests
  • Polycystic liver disease 3 with or without kidney cysts2 tests
  • Polydactyly, postaxial, type A11 test
  • Polyendocrine-polyneuropathy syndrome1 test
  • Polyglandular autoimmune syndrome, type 14 tests
  • Polyglucosan body myopathy type 17 tests
  • Polyglucosan body myopathy type 21 test
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
  • Polymicrogyria with or without vascular-type ehlers-danlos syndrome7 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
  • Polyposis syndrome, hereditary mixed, 24 tests
  • Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal2 tests
  • Polysyndactyly 41 test
  • Pontocerebellar hypoplasia type 105 tests
  • Pontocerebellar hypoplasia type 1A8 tests
  • Pontocerebellar hypoplasia type 1B10 tests
  • Pontocerebellar hypoplasia type 2A7 tests
  • Pontocerebellar hypoplasia type 2B8 tests
  • Pontocerebellar hypoplasia type 2C6 tests
  • Pontocerebellar hypoplasia type 2D5 tests
  • Pontocerebellar hypoplasia type 2E5 tests
  • Pontocerebellar hypoplasia type 47 tests
  • Pontocerebellar hypoplasia type 53 tests
  • Pontocerebellar hypoplasia type 611 tests
  • Pontocerebellar hypoplasia type 75 tests
  • Pontocerebellar hypoplasia type 86 tests
  • Pontocerebellar hypoplasia type 97 tests
  • Pontocerebellar hypoplasia, type 114 tests
  • Pontocerebellar hypoplasia, type 1210 tests
  • Pontocerebellar hypoplasia, type 1C3 tests
  • Pontocerebellar hypoplasia, type 1D4 tests
  • Pontocerebellar hypoplasia, type 1E4 tests
  • Pontocerebellar hypoplasia, type 2F3 tests
  • Porencephaly 27 tests
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome6 tests
  • Porokeratosis 3, disseminated superficial actinic type3 tests
  • Porphobilinogen synthase deficiency6 tests
  • Portal hypertension, noncirrhotic, 11 test
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome6 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome6 tests
  • Potassium-aggravated myotonia1 test
  • PPARG-related familial partial lipodystrophy8 tests
  • Prader-Willi syndrome2 tests
  • Prader-Willi syndrome due to imprinting mutation1 test
  • Precocious puberty, central, 22 tests
  • Predisposition to invasive fungal disease due to CARD9 deficiency2 tests
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Preimplantation embryonic lethality 12 tests
  • Premature ovarian failure 13 tests
  • Premature ovarian failure 111 test
  • Premature ovarian failure 152 tests
  • Premature ovarian failure 172 tests
  • Premature ovarian failure 36 tests
  • Premature ovarian failure 71 test
  • Preterm premature rupture of membranes1 test
  • Pretibial dystrophic epidermolysis bullosa1 test
  • Primary CD59 deficiency6 tests
  • Primary ciliary dyskinesia 108 tests
  • Primary ciliary dyskinesia 116 tests
  • Primary ciliary dyskinesia 126 tests
  • Primary ciliary dyskinesia 138 tests
  • Primary ciliary dyskinesia 148 tests
  • Primary ciliary dyskinesia 1510 tests
  • Primary ciliary dyskinesia 168 tests
  • Primary ciliary dyskinesia 178 tests
  • Primary ciliary dyskinesia 186 tests
  • Primary ciliary dyskinesia 196 tests
  • Primary ciliary dyskinesia 27 tests
  • Primary ciliary dyskinesia 207 tests
  • Primary ciliary dyskinesia 216 tests
  • Primary ciliary dyskinesia 225 tests
  • Primary ciliary dyskinesia 236 tests
  • Primary ciliary dyskinesia 246 tests
  • Primary ciliary dyskinesia 257 tests
  • Primary ciliary dyskinesia 268 tests
  • Primary ciliary dyskinesia 275 tests
  • Primary ciliary dyskinesia 286 tests
  • Primary ciliary dyskinesia 294 tests
  • Primary ciliary dyskinesia 310 tests
  • Primary ciliary dyskinesia 306 tests
  • Primary ciliary dyskinesia 323 tests
  • Primary ciliary dyskinesia 334 tests
  • Primary ciliary dyskinesia 342 tests
  • Primary ciliary dyskinesia 355 tests
  • Primary ciliary dyskinesia 57 tests
  • Primary ciliary dyskinesia 68 tests
  • Primary ciliary dyskinesia 78 tests
  • Primary ciliary dyskinesia 910 tests
  • Primary coenzyme Q10 deficiency 85 tests
  • Primary erythromelalgia5 tests
  • Primary failure of tooth eruption1 test
  • Primary familial hypertrophic cardiomyopathy1 test
  • Primary familial polycythemia due to EPO receptor mutation1 test
  • Primary hyperoxaluria type 34 tests
  • Primary hyperoxaluria, type I7 tests
  • Primary hyperoxaluria, type II4 tests
  • Primary hypomagnesemia7 tests
  • Primary immunodeficiency syndrome due to p14 deficiency3 tests
  • Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency5 tests
  • Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection4 tests
  • Primary mediastinal large B-cell lymphoma1 test
  • Primary open angle glaucoma1 test
  • Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
  • Progressive bulbar palsy of childhood1 test
  • Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency2 tests
  • Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome3 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 29 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 410 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 25 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 39 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 53 tests
  • Progressive familial heart block type IB2 tests
  • Progressive familial heart block, type 1A1 test
  • Progressive familial intrahepatic cholestasis type 11 test
  • Progressive familial intrahepatic cholestasis type 25 tests
  • Progressive familial intrahepatic cholestasis type 31 test
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1 test
  • Progressive myoclonic epilepsy type 36 tests
  • Progressive myoclonic epilepsy type 65 tests
  • Progressive myoclonic epilepsy type 75 tests
  • Progressive myoclonic epilepsy type 83 tests
  • Progressive myositis ossificans2 tests
  • Progressive osseous heteroplasia2 tests
  • Progressive pseudorheumatoid dysplasia3 tests
  • Progressive retinal dystrophy due to retinol transport defect3 tests
  • Progressive scapulohumeroperoneal distal myopathy1 test
  • Progressive sclerosing poliodystrophy14 tests
  • Progressive supranuclear palsy-parkinsonism syndrome4 tests
  • Prolactin-producing pituitary gland adenoma1 test
  • Prolidase deficiency5 tests
  • Proliferative vitreoretinopathy2 tests
  • Proline dehydrogenase deficiency6 tests
  • Properdin deficiency, X-linked2 tests
  • Propionic acidemia10 tests
  • Prostate cancer, hereditary, 11 test
  • Prostate cancer, hereditary, 21 test
  • Prostate cancer, hereditary, 92 tests
  • Protan defect1 test
  • Proteasome-associated autoinflammatory syndrome 12 tests
  • Proteasome-associated autoinflammatory syndrome 21 test
  • Proteasome-associated autoinflammatory syndrome 32 tests
  • Protein-losing enteropathy1 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Proteus syndrome2 tests
  • Protoplasmic astrocytoma2 tests
  • Protoporphyria, erythropoietic, 16 tests
  • Proximal myopathy with extrapyramidal signs6 tests
  • Proximal symphalangism 1A4 tests
  • Prune belly syndrome1 test
  • PSAT deficiency4 tests
  • Pseudo von Willebrand disease1 test
  • Pseudo-Hurler polydystrophy1 test
  • Pseudo-TORCH syndrome 15 tests
  • Pseudo-TORCH syndrome 21 test
  • Pseudo-TORCH syndrome 31 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome5 tests
  • Pseudoexfoliation glaucoma1 test
  • Pseudohyperaldosteronism type 21 test
  • Pseudohypoaldosteronism type 2B3 tests
  • Pseudohypoaldosteronism type 2C6 tests
  • Pseudohypoaldosteronism type 2D3 tests
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoparathyroidism type 1B2 tests
  • Pseudohypoparathyroidism type 1C2 tests
  • Pseudohypoparathyroidism type I A2 tests
  • Pseudopseudohypoparathyroidism2 tests
  • Pseudoxanthoma elasticum10 tests
  • Pseudoxanthoma elasticum, forme fruste1 test
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis 21 test
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism4 tests
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency3 tests
  • PULMONARY ALVEOLAR MICROLITHIASIS2 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 31 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41 test
  • Pulmonary hypertension, neonatal, susceptibility to6 tests
  • Pulmonary hypertension, primary, 11 test
  • Pulmonary hypertension, primary, 22 tests
  • Pulmonary hypertension, primary, 31 test
  • Pulmonary hypertension, primary, 43 tests
  • Pulmonary venoocclusive disease 1, autosomal dominant3 tests
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome4 tests
  • Pure gonadal dysgenesis 46,XY1 test
  • Purine-nucleoside phosphorylase deficiency3 tests
  • PYCR1-related de Barsy syndrome7 tests
  • Pyknodysostosis7 tests
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyogenic bacterial infections due to MyD88 deficiency2 tests
  • Pyridoxal phosphate-responsive seizures7 tests
  • Pyridoxine-dependent epilepsy7 tests
  • Pyropoikilocytosis, hereditary1 test
  • Pyruvate carboxylase deficiency10 tests
  • Pyruvate dehydrogenase E1-alpha deficiency11 tests
  • Pyruvate dehydrogenase E1-beta deficiency10 tests
  • Pyruvate dehydrogenase E2 deficiency8 tests
  • Pyruvate dehydrogenase E3 deficiency9 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency9 tests
  • Pyruvate dehydrogenase phosphatase deficiency8 tests
  • Pyruvate kinase deficiency of red cells7 tests
  • Pyruvate kinase hyperactivity1 test
  • Quebec platelet disorder1 test
  • RAB23-related Carpenter syndrome4 tests
  • Radial aplasia-thrombocytopenia syndrome4 tests
  • Radioulnar synostosis3 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 13 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 23 tests
  • Rafiq syndrome6 tests
  • Rajab interstitial lung disease with brain calcifications 14 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome1 test
  • Rauch-Steindl syndrome1 test
  • Recessive dystrophic epidermolysis bullosa5 tests
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome4 tests
  • Recurrent Neisseria infections due to factor D deficiency3 tests
  • Regressive spondylometaphyseal dysplasia5 tests
  • Renal carnitine transport defect12 tests
  • Renal cell carcinoma, papillary, 13 tests
  • Renal coloboma syndrome6 tests
  • Renal cysts and diabetes syndrome2 tests
  • Renal dysplasia, cystic, susceptibility to2 tests
  • Renal hypodysplasia/aplasia 13 tests
  • Renal hypodysplasia/aplasia 33 tests
  • Renal hypomagnesemia 26 tests
  • Renal hypomagnesemia 44 tests
  • Renal hypomagnesemia 5 with ocular involvement6 tests
  • Renal hypomagnesemia 61 test
  • Renal tubular acidosis with progressive nerve deafness6 tests
  • Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss5 tests
  • Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
  • Renal tubular dysgenesis of genetic origin9 tests
  • Renal-hepatic-pancreatic dysplasia 110 tests
  • Renal-hepatic-pancreatic dysplasia 21 test
  • Renpenning syndrome5 tests
  • Respiratory papillomatosis, juvenile recurrent, congenital1 test
  • Restrictive dermopathy 21 test
  • Reticular dysgenesis5 tests
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 42 tests
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
  • Retinal macular dystrophy type 21 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Retinitis pigmentosa 12 tests
  • Retinitis pigmentosa 104 tests
  • Retinitis pigmentosa 112 tests
  • Retinitis pigmentosa 121 test
  • Retinitis pigmentosa 132 tests
  • Retinitis pigmentosa 141 test
  • Retinitis pigmentosa 172 tests
  • Retinitis pigmentosa 182 tests
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 22 tests
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 263 tests
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 283 tests
  • Retinitis pigmentosa 31 test
  • Retinitis pigmentosa 301 test
  • Retinitis pigmentosa 312 tests
  • Retinitis pigmentosa 332 tests
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 362 tests
  • Retinitis pigmentosa 384 tests
  • Retinitis pigmentosa 397 tests
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 425 tests
  • Retinitis pigmentosa 433 tests
  • Retinitis pigmentosa 442 tests
  • Retinitis pigmentosa 452 tests
  • Retinitis pigmentosa 464 tests
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 482 tests
  • Retinitis pigmentosa 492 tests
  • Retinitis pigmentosa 505 tests
  • Retinitis pigmentosa 5111 tests
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 562 tests
  • Retinitis pigmentosa 572 tests
  • Retinitis pigmentosa 582 tests
  • Retinitis pigmentosa 596 tests
  • Retinitis pigmentosa 602 tests
  • Retinitis pigmentosa 612 tests
  • Retinitis pigmentosa 622 tests
  • Retinitis pigmentosa 662 tests
  • Retinitis pigmentosa 682 tests
  • Retinitis pigmentosa 78 tests
  • Retinitis pigmentosa 702 tests
  • Retinitis pigmentosa 711 test
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 737 tests
  • Retinitis pigmentosa 7410 tests
  • Retinitis pigmentosa 752 tests
  • Retinitis pigmentosa 768 tests
  • Retinitis pigmentosa 772 tests
  • Retinitis pigmentosa 781 test
  • Retinitis pigmentosa 791 test
  • Retinitis pigmentosa 801 test
  • Retinitis pigmentosa 814 tests
  • Retinitis pigmentosa 831 test
  • Retinitis pigmentosa 842 tests
  • Retinitis pigmentosa 87 with choroidal involvement5 tests
  • Retinitis pigmentosa 882 tests
  • Retinitis pigmentosa 931 test
  • Retinitis pigmentosa and erythrocytic microcytosis1 test
  • Retinitis pigmentosa with or without situs inversus2 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
  • Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome3 tests
  • Retinoblastoma5 tests
  • Rett syndrome2 tests
  • Rett syndrome, congenital variant4 tests
  • Revesz syndrome1 test
  • Reynolds syndrome1 test
  • RFT1-congenital disorder of glycosylation6 tests
  • Rh-null, regulator type2 tests
  • Rhabdoid tumor predisposition syndrome 16 tests
  • Rhabdoid tumor predisposition syndrome 28 tests
  • Rhabdomyosarcoma, embryonal, 23 tests
  • Rheumatoid arthritis2 tests
  • Rhizomelic chondrodysplasia punctata type 115 tests
  • Rhizomelic chondrodysplasia punctata type 210 tests
  • Rhizomelic chondrodysplasia punctata type 310 tests
  • Rhizomelic chondrodysplasia punctata type 51 test
  • RHYNS syndrome1 test
  • RIDDLE syndrome4 tests
  • Rienhoff syndrome1 test
  • Right atrial isomerism3 tests
  • RIN2 syndrome4 tests
  • Ring dermoid of cornea1 test
  • Rippling muscle disease 21 test
  • Ritscher-Schinzel syndrome 16 tests
  • Ritscher-Schinzel syndrome 23 tests
  • Roberts-SC phocomelia syndrome6 tests
  • Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction11 tests
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1 test
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome10 tests
  • Rotor syndrome9 tests
  • Roussy-Lévy syndrome6 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations9 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
  • Sacral defect with anterior meningocele1 test
  • Saethre-Chotzen syndrome2 tests
  • Saldino-Mainzer syndrome6 tests
  • Salla disease9 tests
  • Sandhoff disease14 tests
  • Sarcotubular myopathy1 test
  • Scalp-ear-nipple syndrome1 test
  • Scapuloperoneal spinal muscular atrophy1 test
  • Schaaf-Yang syndrome6 tests
  • SchC6pf-Schulz-Passarge syndrome2 tests
  • Schimke immuno-osseous dysplasia5 tests
  • Schinzel phocomelia syndrome5 tests
  • Schinzel-Giedion syndrome1 test
  • Schizencephaly7 tests
  • Schizophrenia4 tests
  • Schizophrenia 181 test
  • Schizophrenia 61 test
  • Schneckenbecken dysplasia4 tests
  • Schuurs-Hoeijmakers syndrome2 tests
  • Schwannomatosis 15 tests
  • Schwannomatosis 21 test
  • Schwartz-Jampel syndrome type 11 test
  • Sclerosteosis 12 tests
  • Sclerosteosis 27 tests
  • SCOTT SYNDROME2 tests
  • Sea-blue histiocyte syndrome1 test
  • Seborrheic keratosis1 test
  • Seckel syndrome 17 tests
  • Seckel syndrome 21 test
  • Seckel syndrome 41 test
  • Seckel syndrome 58 tests
  • Seckel syndrome 64 tests
  • Seckel syndrome 81 test
  • Seckel syndrome 92 tests
  • Seizures, benign familial infantile, 26 tests
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial infantile, 54 tests
  • Seizures, benign familial neonatal, 15 tests
  • Seizures, benign familial neonatal, 24 tests
  • Seizures-scoliosis-macrocephaly syndrome4 tests
  • Selective pituitary resistance to thyroid hormone4 tests
  • Senior-Loken syndrome 113 tests
  • Senior-Loken syndrome 54 tests
  • Senior-Loken syndrome 65 tests
  • Senior-Loken syndrome 79 tests
  • Senior-Loken syndrome 85 tests
  • Senior-Loken syndrome 98 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Septo-optic dysplasia sequence8 tests
  • SERKAL syndrome2 tests
  • Sessile serrated polyposis cancer syndrome4 tests
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
  • Severe combined immunodeficiency due to CARD11 deficiency1 test
  • Severe combined immunodeficiency due to CARMIL2 deficiency1 test
  • Severe combined immunodeficiency due to CD70 deficiency2 tests
  • Severe combined immunodeficiency due to CORO1A deficiency2 tests
  • Severe combined immunodeficiency due to CTPS1 deficiency3 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency3 tests
  • Severe combined immunodeficiency due to IKK2 deficiency1 test
  • Severe combined immunodeficiency due to LAT deficiency5 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency10 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive5 tests
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome2 tests
  • Severe early-childhood-onset retinal dystrophy3 tests
  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency6 tests
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome4 tests
  • Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome3 tests
  • Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome3 tests
  • Severe intellectual disability-progressive spastic diplegia syndrome1 test
  • Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome3 tests
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome5 tests
  • Severe myoclonic epilepsy in infancy9 tests
  • Severe neonatal-onset encephalopathy with microcephaly2 tests
  • Severe neurodegenerative syndrome with lipodystrophy1 test
  • Severe X-linked mitochondrial encephalomyopathy1 test
  • Severe X-linked myotubular myopathy7 tests
  • Short QT syndrome type 32 tests
  • Short stature due to partial GHR deficiency6 tests
  • Short stature with microcephaly and distinctive facies4 tests
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11 test
  • Short stature, microcephaly, and endocrine dysfunction2 tests
  • Short stature-brachydactyly-obesity-global developmental delay syndrome4 tests
  • Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome6 tests
  • SHORT syndrome4 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly9 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly4 tests
  • Short-rib thoracic dysplasia 14 with polydactyly4 tests
  • Short-rib thoracic dysplasia 15 with polydactyly4 tests
  • Short-rib thoracic dysplasia 18 with polydactyly2 tests
  • Short-rib thoracic dysplasia 19 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 20 with polydactyly1 test
  • Short-rib thoracic dysplasia 6 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly5 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly4 tests
  • SHOX-related short stature2 tests
  • Shprintzen-Goldberg syndrome5 tests
  • Shwachman-Diamond syndrome 111 tests
  • Shwachman-Diamond syndrome 23 tests
  • Sialic acid storage disease, severe infantile type2 tests
  • Sialidosis type 26 tests
  • Sialuria10 tests
  • Sick sinus syndrome 11 test
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sick sinus syndrome 3, susceptibility to2 tests
  • Sideroblastic anemia 26 tests
  • Sideroblastic anemia 36 tests
  • Sifrim-Hitz-Weiss syndrome3 tests
  • Simpson-Golabi-Behmel syndrome type 12 tests
  • Simpson-Golabi-Behmel syndrome type 21 test
  • SIN3A-related intellectual disability syndrome due to a point mutation3 tests
  • Singleton-Merten syndrome 11 test
  • Singleton-Merten syndrome 22 tests
  • Sinoatrial node dysfunction and deafness5 tests
  • Sitosterolemia 16 tests
  • Sitosterolemia 26 tests
  • Situs ambiguus1 test
  • Six2-related frontonasal dysplasia2 tests
  • Sjögren-Larsson syndrome8 tests
  • Skeletal dysplasia, mild, with joint laxity and advanced bone age2 tests
  • Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome3 tests
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome1 test
  • SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN1 test
  • Skin/hair/eye pigmentation, variation in, 12 tests
  • Skin/hair/eye pigmentation, variation in, 111 test
  • Skin/hair/eye pigmentation, variation in, 31 test
  • Skin/hair/eye pigmentation, variation in, 53 tests
  • Skraban-Deardorff syndrome3 tests
  • SLC35A1-congenital disorder of glycosylation6 tests
  • SLC35A2-congenital disorder of glycosylation6 tests
  • SLC39A8-CDG3 tests
  • Small cell lung carcinoma3 tests
  • Smith-Lemli-Opitz syndrome12 tests
  • Smith-Magenis syndrome6 tests
  • Smith-McCort dysplasia 18 tests
  • Smoking as a quantitative trait locus 33 tests
  • Sneddon syndrome3 tests
  • Snijders Blok-Campeau syndrome3 tests
  • Snowflake vitreoretinal degeneration1 test
  • Sodium serum level quantitative trait locus 11 test
  • Somatotroph adenoma2 tests
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome1 test
  • Sotos syndrome 18 tests
  • Southeast Asian ovalocytosis1 test
  • Spastic ataxia 17 tests
  • Spastic ataxia 24 tests
  • Spastic ataxia 31 test
  • Spastic ataxia 46 tests
  • Spastic ataxia 56 tests
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy4 tests
  • Spastic paraplegia 52, autosomal recessive6 tests
  • Spastic paraplegia 80, autosomal dominant5 tests
  • Spastic paraplegia 81, autosomal recessive5 tests
  • Spastic paraplegia 82, autosomal recessive3 tests
  • Spastic paraplegia 85, autosomal recessive1 test
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity;6 tests
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome6 tests
  • Spastic tetraplegia and axial hypotonia, progressive2 tests
  • Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome5 tests
  • Specific granule deficiency 12 tests
  • Specific granule deficiency 21 test
  • Spermatogenic failure 172 tests
  • Spermatogenic failure 181 test
  • Spermatogenic failure 251 test
  • Spermatogenic failure 72 tests
  • Spermatogenic failure 721 test
  • Spermatogenic failure 82 tests
  • Spermatogenic failure 91 test
  • Spermatogenic failure, Y-linked, 23 tests
  • Spermatogenic failures 501 test
  • Spheroid body myopathy5 tests
  • Sphingolipid activator protein 1 deficiency8 tests
  • Spinal muscular atrophy with congenital bone fractures 23 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 61 test
  • Spinal muscular atrophy, infantile, James type1 test
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant7 tests
  • Spinal muscular atrophy, type II2 tests
  • Spinal muscular atrophy, type IV4 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1 test
  • Spinocerebellar ataxia 441 test
  • Spinocerebellar ataxia 454 tests
  • Spinocerebellar ataxia 475 tests
  • Spinocerebellar ataxia 483 tests
  • Spinocerebellar ataxia 495 tests
  • Spinocerebellar ataxia 73 tests
  • Spinocerebellar ataxia type 13 tests
  • Spinocerebellar ataxia type 103 tests
  • Spinocerebellar ataxia type 114 tests
  • Spinocerebellar ataxia type 124 tests
  • Spinocerebellar ataxia type 134 tests
  • Spinocerebellar ataxia type 145 tests
  • Spinocerebellar ataxia type 15/161 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/226 tests
  • Spinocerebellar ataxia type 24 tests
  • Spinocerebellar ataxia type 214 tests
  • Spinocerebellar ataxia type 235 tests
  • Spinocerebellar ataxia type 251 test
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 274 tests
  • Spinocerebellar ataxia type 284 tests
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 313 tests
  • Spinocerebellar ataxia type 347 tests
  • Spinocerebellar ataxia type 354 tests
  • Spinocerebellar ataxia type 363 tests
  • Spinocerebellar ataxia type 374 tests
  • Spinocerebellar ataxia type 384 tests
  • Spinocerebellar ataxia type 404 tests
  • Spinocerebellar ataxia type 425 tests
  • Spinocerebellar ataxia type 54 tests
  • Spinocerebellar ataxia type 62 tests
  • Spinocerebellar ataxia type 83 tests
  • Spinocerebellar ataxia, autosomal recessive 243 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 14 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 37 tests
  • Split hand-foot malformation 12 tests
  • Split hand-foot malformation 1 with sensorineural hearing loss1 test
  • Split hand-foot malformation 41 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia3 tests
  • Spondylo-ocular syndrome1 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocostal dysostosis 1, autosomal recessive6 tests
  • Spondylocostal dysostosis 2, autosomal recessive4 tests
  • Spondylocostal dysostosis 3, autosomal recessive1 test
  • Spondylocostal dysostosis 4, autosomal recessive1 test
  • Spondylocostal dysostosis 52 tests
  • Spondylocostal dysostosis 6, autosomal recessive2 tests
  • Spondyloenchondrodysplasia with immune dysregulation5 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 33 tests
  • Spondyloepimetaphyseal dysplasia with multiple dislocations4 tests
  • Spondyloepimetaphyseal dysplasia, Bieganski type10 tests
  • Spondyloepimetaphyseal dysplasia, Genevieve type1 test
  • Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type4 tests
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type4 tests
  • Spondyloepimetaphyseal dysplasia, Strudwick type1 test
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita8 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations4 tests
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis1 test
  • Spondyloepiphyseal dysplasia, Stanescu type1 test
  • Spondylometaphyseal dysplasia - Sutcliffe type3 tests
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spondyloperipheral dysplasia1 test
  • Spongiform encephalopathy with neuropsychiatric features2 tests
  • Spongy degeneration of central nervous system5 tests
  • SSR4-congenital disorder of glycosylation5 tests
  • Stankiewicz-Isidor syndrome3 tests
  • Stapes ankylosis with broad thumbs and toes1 test
  • Stargardt disease 31 test
  • Stargardt disease 46 tests
  • STAT3-related early-onset multisystem autoimmune disease8 tests
  • Steinert myotonic dystrophy syndrome4 tests
  • Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
  • Stickler syndrome type 11 test
  • Stickler syndrome type 26 tests
  • Stickler syndrome, type 45 tests
  • Stiff skin syndrome2 tests
  • STING-associated vasculopathy with onset in infancy4 tests
  • Stormorken syndrome1 test
  • Striatal degeneration, autosomal dominant 24 tests
  • Stromme syndrome6 tests
  • Structural brain anomalies with impaired intellectual development and craniosynostosis1 test
  • STT3A-congenital disorder of glycosylation4 tests
  • STT3B-congenital disorder of glycosylation3 tests
  • Sturge-Weber syndrome2 tests
  • Stuttering, familial persistent, 11 test
  • Stüve-Wiedemann syndrome 15 tests
  • Succinate-semialdehyde dehydrogenase deficiency8 tests
  • Succinyl-CoA acetoacetate transferase deficiency6 tests
  • Sucrase-isomaltase deficiency3 tests
  • SUDDEN INFANT DEATH SYNDROME3 tests
  • Sudden infant death-dysgenesis of the testes syndrome3 tests
  • Sulfite oxidase deficiency6 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A5 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B5 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C5 tests
  • Supranuclear palsy, progressive, 11 test
  • Supravalvar aortic stenosis6 tests
  • Surfactant metabolism dysfunction, pulmonary, 23 tests
  • Surfactant metabolism dysfunction, pulmonary, 53 tests
  • Susceptibility to HIV infection4 tests
  • Susceptibility to mononeuropathy of the median nerve, mild1 test
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
  • Sweeney-Cox syndrome3 tests
  • Symmetrical dyschromatosis of extremities10 tests
  • Symphalangism, proximal, 1B5 tests
  • Symphalangism-brachydactyly syndrome1 test
  • Syndromic microphthalmia type 51 test
  • Syndromic multisystem autoimmune disease due to ITCH deficiency3 tests
  • Syndromic X-linked intellectual disability 143 tests
  • Syndromic X-linked intellectual disability 943 tests
  • Syndromic X-linked intellectual disability Claes-Jensen type6 tests
  • Syndromic X-linked intellectual disability Hedera type1 test
  • Syndromic X-linked intellectual disability Lubs type2 tests
  • Syndromic X-linked intellectual disability Najm type1 test
  • Syndromic X-linked intellectual disability Nascimento type4 tests
  • Syndromic X-linked intellectual disability Raymond type3 tests
  • Syndromic X-linked intellectual disability Siderius type4 tests
  • Syndromic X-linked intellectual disability Snyder type4 tests
  • Synpolydactyly type 21 test
  • Systemic lupus erythematosus10 tests
  • Systemic lupus erythematosus, susceptibility to, 21 test
  • Systemic lupus erythematosus, susceptibility to, 94 tests
  • Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease1 test
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency4 tests
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy2 tests
  • T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1 test
  • Tall stature-intellectual disability-facial dysmorphism syndrome3 tests
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome6 tests
  • Tangier disease5 tests
  • TARP syndrome5 tests
  • Tarsal-carpal coalition syndrome1 test
  • Tay-Sachs disease21 tests
  • Tay-Sachs disease, variant AB5 tests
  • TCF12-related craniosynostosis1 test
  • Teebi hypertelorism syndrome 13 tests
  • Teebi hypertelorism syndrome 21 test
  • Telangiectasia, hereditary hemorrhagic, type 14 tests
  • Telangiectasia, hereditary hemorrhagic, type 26 tests
  • Telangiectasia, hereditary hemorrhagic, type 53 tests
  • Temple-Baraitser syndrome4 tests
  • Temtamy preaxial brachydactyly syndrome5 tests
  • Temtamy syndrome4 tests
  • Terminal osseous dysplasia-pigmentary defects syndrome1 test
  • Testosterone 17-beta-dehydrogenase deficiency3 tests
  • Tetralogy of Fallot13 tests
  • TFRC-related combined immunodeficiency2 tests
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test
  • Thiopurine methyltransferase deficiency1 test
  • Thrombocythemia 14 tests
  • Thrombocythemia 25 tests
  • Thrombocytopenia 15 tests
  • Thrombocytopenia 24 tests
  • Thrombocytopenia 32 tests
  • Thrombocytopenia 44 tests
  • Thrombocytopenia 55 tests
  • Thrombocytopenia 61 test
  • Thrombocytopenia, anemia, and myelofibrosis2 tests
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
  • Thrombomodulin-related bleeding disorder1 test
  • Thrombophilia 13, X-linked, due to factor VIII defect2 tests
  • Thrombophilia due to activated protein C resistance6 tests
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein C deficiency, autosomal recessive3 tests
  • Thrombophilia due to protein S deficiency, autosomal dominant2 tests
  • Thrombophilia due to thrombin defect10 tests
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator2 tests
  • Thrombophilia, X-linked, due to factor 9 defect4 tests
  • Thyroglobulin synthesis defect2 tests
  • Thyroid cancer, nonmedullary, 11 test
  • Thyroid cancer, nonmedullary, 24 tests
  • Thyroid dyshormonogenesis 61 test
  • Thyroid hormone metabolism, abnormal 14 tests
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Tibial muscular dystrophy2 tests
  • Tietz syndrome1 test
  • Timothy syndrome4 tests
  • TMEM165-congenital disorder of glycosylation5 tests
  • TMEM199-CDG3 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Tobacco addiction, susceptibility to2 tests
  • Tooth agenesis, selective, 11 test
  • Tooth agenesis, selective, 32 tests
  • Tooth agenesis, selective, 41 test
  • Tooth agenesis, selective, X-linked, 11 test
  • Torsion dystonia 21 test
  • Torsion dystonia 41 test
  • Torsion dystonia 62 tests
  • Tourette syndrome1 test
  • Townes-Brocks syndrome 19 tests
  • Transcobalamin II deficiency5 tests
  • Transferrin serum level quantitative trait locus 21 test
  • Transient bullous dermolysis of the newborn1 test
  • Transient infantile hypertriglyceridemia and hepatosteatosis2 tests
  • Treacher Collins syndrome 15 tests
  • Treacher Collins syndrome 24 tests
  • Treacher Collins syndrome 37 tests
  • Tremor, hereditary essential, 11 test
  • Tremor, hereditary essential, 41 test
  • Tremor, hereditary essential, 53 tests
  • Tricho-dento-osseous syndrome3 tests
  • Trichoepithelioma, multiple familial, 11 test
  • Trichohepatoenteric syndrome 14 tests
  • Trichohepatoenteric syndrome 22 tests
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichorhinophalangeal syndrome, type III5 tests
  • Trichothiodystrophy 1, photosensitive7 tests
  • Trichothiodystrophy 2, photosensitive2 tests
  • Trichothiodystrophy 3, photosensitive2 tests
  • Trichothiodystrophy 4, nonphotosensitive2 tests
  • Trichothiodystrophy 5, nonphotosensitive3 tests
  • Trichothiodystrophy 8, nonphotosensitive1 test
  • Trichothiodystrophy 9, nonphotosensitive1 test
  • Trichotillomania1 test
  • Triglyceride storage disease with ichthyosis6 tests
  • Trigonocephaly 11 test
  • Trigonocephaly 21 test
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency4 tests
  • Tropical pancreatitis2 tests
  • Troyer syndrome6 tests
  • Tuberous sclerosis 113 tests
  • Tuberous sclerosis 212 tests
  • Tubulointerstitial kidney disease, autosomal dominant, 23 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 13 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 21 test
  • Turcot syndrome7 tests
  • Type 1 diabetes mellitus 101 test
  • Type 1 diabetes mellitus 124 tests
  • Type 1 diabetes mellitus 21 test
  • Type 1 diabetes mellitus 201 test
  • Type 2 diabetes mellitus24 tests
  • Type I complement component 8 deficiency2 tests
  • Type II complement component 8 deficiency2 tests
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Tyrosinase-positive oculocutaneous albinism3 tests
  • Tyrosinemia type I11 tests
  • Tyrosinemia type II5 tests
  • Tyrosinemia type III5 tests
  • UDPglucose-4-epimerase deficiency6 tests
  • Ulerythema ophryogenes3 tests
  • Ullrich congenital muscular dystrophy 17 tests
  • Ullrich congenital muscular dystrophy 21 test
  • Ulnar-mammary syndrome7 tests
  • Unilateral renal agenesis2 tests
  • Unverricht-Lundborg syndrome6 tests
  • Upshaw-Schulman syndrome4 tests
  • Urinary bladder, atony of1 test
  • Urocanate hydratase deficiency3 tests
  • Urofacial syndrome 23 tests
  • Urofacial syndrome type 13 tests
  • Uruguay Faciocardiomusculoskeletal syndrome4 tests
  • Usher syndrome type 11 test
  • Usher syndrome type 1C1 test
  • Usher syndrome type 1D3 tests
  • Usher syndrome type 1F7 tests
  • Usher syndrome type 1G3 tests
  • Usher syndrome type 1J1 test
  • Usher syndrome type 2A3 tests
  • Usher syndrome type 2C5 tests
  • Usher syndrome type 2D3 tests
  • Usher syndrome type 3A4 tests
  • Usher syndrome type 3B1 test
  • Usher syndrome, type 1M1 test
  • Usher syndrome, type 42 tests
  • UV-sensitive syndrome 11 test
  • UV-sensitive syndrome 25 tests
  • UV-sensitive syndrome 31 test
  • Uveal coloboma-cleft lip and palate-intellectual disability1 test
  • Uveal melanoma1 test
  • VACTERL association, X-linked, with or without hydrocephalus1 test
  • Van der Woude syndrome 11 test
  • Van der Woude syndrome 22 tests
  • Van Maldergem syndrome 11 test
  • Van Maldergem syndrome 26 tests
  • Vanishing white matter disease13 tests
  • Variegate porphyria8 tests
  • Vasculitis due to ADA2 deficiency1 test
  • Velocardiofacial syndrome1 test
  • Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome2 tests
  • Ventricular fibrillation, paroxysmal familial, 21 test
  • Ventricular fibrillation, paroxysmal familial, type 11 test
  • Ventricular septal defect 21 test
  • Ventricular septal defect 32 tests
  • VENTRICULOMEGALY AND ARTHROGRYPOSIS1 test
  • Ventriculomegaly-cystic kidney disease3 tests
  • Vertebral anomalies and variable endocrine and T-cell dysfunction1 test
  • Vertebral, cardiac, renal, and limb defects syndrome 13 tests
  • Vertebral, cardiac, renal, and limb defects syndrome 23 tests
  • Vertebral, cardiac, renal, and limb defects syndrome 33 tests
  • Ververi-Brady syndrome3 tests
  • Very long chain acyl-CoA dehydrogenase deficiency10 tests
  • Vesicoureteral reflux 24 tests
  • Vesicoureteral reflux 34 tests
  • VEXAS syndrome1 test
  • Vici syndrome7 tests
  • Visceral myopathy1 test
  • VISCERAL MYOPATHY 21 test
  • VISS SYNDROME2 tests
  • Vissers-Bodmer syndrome3 tests
  • Vitamin D hydroxylation-deficient rickets, type 1B2 tests
  • Vitamin D-dependent rickets type II with alopecia4 tests
  • Vitamin D-dependent rickets, type 1A5 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
  • Vitelliform macular dystrophy 21 test
  • Vitelliform macular dystrophy 31 test
  • Vitelliform macular dystrophy 41 test
  • Vitelliform macular dystrophy 51 test
  • Vitiligo-associated multiple autoimmune disease susceptibility 12 tests
  • Von Hippel-Lindau syndrome6 tests
  • von Willebrand disease type 11 test
  • von Willebrand disease type 21 test
  • von Willebrand disease type 33 tests
  • Waardenburg syndrome type 18 tests
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E12 tests
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C1 test
  • Waardenburg syndrome, type 2F1 test
  • Wagner syndrome5 tests
  • Warburg micro syndrome 16 tests
  • Warburg micro syndrome 21 test
  • Warburg micro syndrome 36 tests
  • Warburg micro syndrome 44 tests
  • Warburg-cinotti syndrome6 tests
  • Warfarin response1 test
  • Warfarin sensitivity, X-linked1 test
  • Warsaw breakage syndrome2 tests
  • Weaver syndrome5 tests
  • Webb-Dattani syndrome1 test
  • Weill-Marchesani syndrome 15 tests
  • Weill-Marchesani syndrome 2, dominant2 tests
  • Weill-Marchesani syndrome 32 tests
  • Welander distal myopathy3 tests
  • Werdnig-Hoffmann disease2 tests
  • Werner syndrome3 tests
  • WHIM syndrome 14 tests
  • Wieacker-Wolff syndrome1 test
  • Wieacker-Wolff syndrome, female-restricted5 tests
  • Wiedemann-Steiner syndrome3 tests
  • Wilms tumor 125 tests
  • Wilms tumor 62 tests
  • Wilson disease13 tests
  • Wiskott-Aldrich syndrome1 test
  • Wiskott-Aldrich syndrome 22 tests
  • Wolcott-Rallison dysplasia6 tests
  • Wolff-Parkinson-White pattern8 tests
  • Wolfram syndrome 11 test
  • Wolfram syndrome 26 tests
  • Wolfram-like syndrome1 test
  • Wolman disease6 tests
  • Woodhouse-Sakati syndrome8 tests
  • Woolly hair-palmoplantar keratoderma syndrome3 tests
  • Wrinkly skin syndrome10 tests
  • X-linked agammaglobulinemia2 tests
  • X-linked agammaglobulinemia with growth hormone deficiency3 tests
  • X-linked Alport syndrome5 tests
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement2 tests
  • X-linked chondrodysplasia punctata 15 tests
  • X-linked complicated corpus callosum dysgenesis1 test
  • X-linked cone-rod dystrophy 11 test
  • X-linked cone-rod dystrophy 34 tests
  • X-linked distal spinal muscular atrophy type 311 tests
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
  • X-linked dystonia-parkinsonism3 tests
  • X-linked Emery-Dreifuss muscular dystrophy4 tests
  • X-linked epilepsy-learning disabilities-behavior disorders syndrome4 tests
  • X-linked erythropoietic protoporphyria1 test
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome1 test
  • X-linked hydrocephalus syndrome8 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency5 tests
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia7 tests
  • X-linked intellectual disability Cabezas type7 tests
  • X-linked intellectual disability with marfanoid habitus2 tests
  • X-linked intellectual disability, Cantagrel type4 tests
  • X-linked intellectual disability, Stocco dos Santos type4 tests
  • X-linked intellectual disability, van Esch type1 test
  • X-linked intellectual disability-cerebellar hypoplasia syndrome8 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome2 tests
  • X-linked intellectual disability-short stature-overweight syndrome2 tests
  • X-linked lissencephaly with abnormal genitalia1 test
  • X-linked lymphoproliferative disease due to SH2D1A deficiency2 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency2 tests
  • X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
  • X-linked mixed hearing loss with perilymphatic gusher2 tests
  • X-linked myopathy with excessive autophagy2 tests
  • X-linked myopathy with postural muscle atrophy4 tests
  • X-linked Opitz G/BBB syndrome4 tests
  • X-linked parkinsonism-spasticity syndrome1 test
  • X-linked progressive cerebellar ataxia4 tests
  • X-linked recessive nephrolithiasis with renal failure1 test
  • X-linked reticulate pigmentary disorder5 tests
  • X-linked scapuloperoneal muscular dystrophy3 tests
  • X-linked severe combined immunodeficiency1 test
  • X-linked severe congenital neutropenia1 test
  • X-linked sideroblastic anemia 110 tests
  • X-linked sideroblastic anemia with ataxia6 tests
  • X-linked spondyloepimetaphyseal dysplasia3 tests
  • Xeroderma pigmentosum group A1 test
  • Xeroderma pigmentosum group B1 test
  • Xeroderma pigmentosum, group C2 tests
  • Xeroderma pigmentosum, group D2 tests
  • Xeroderma pigmentosum, group F1 test
  • Xeroderma pigmentosum, group G5 tests
  • XFE progeroid syndrome1 test
  • Yao syndrome1 test
  • Young adult-onset distal hereditary motor neuropathy4 tests
  • Yunis-Varon syndrome1 test
  • Zimmermann-Laband syndrome 11 test
  • Zimmermann-Laband syndrome 21 test
  • Zinc deficiency, transient neonatal2 tests
  • ZTTK syndrome3 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Whole Genome Sequencing

List of certifications/licenses

Certifications

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.