GTR Home > Laboratories > LifeLabs Genetics

LifeLabs Genetics

GTR Lab ID: 505971, Last updated:2020-10-21

Personnel

Conditions and tests

  • 2,4-Dienoyl-CoA reductase deficiency2 tests
  • 2-aminoadipic 2-oxoadipic aciduria2 tests
  • 2-hydroxyglutaric aciduria1 test
  • 22q13.3 deletion syndrome3 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-methylcrotonyl CoA carboxylase 2 deficiency1 test
  • 3-Methylglutaconic aciduria type 11 test
  • 3-Methylglutaconic aciduria type 21 test
  • 3-Methylglutaconic aciduria type 32 tests
  • 3-methylglutaconic aciduria type V2 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1 test
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia1 test
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 46,XX sex reversal, type 12 tests
  • 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy1 test
  • 46,XY sex reversal 81 test
  • 5-Oxoprolinase deficiency1 test
  • 5p partial monosomy syndrome1 test
  • Aarskog syndrome2 tests
  • Abetalipoproteinaemia1 test
  • Abnormal facial shape1 test
  • Abnormal localization of kidney1 test
  • Abnormal nasal morphology1 test
  • Abnormal pericardium morphology1 test
  • Abnormal pyramidal signs1 test
  • Abnormality of dental morphology1 test
  • Abnormality of female external genitalia1 test
  • Abnormality of neuronal migration1 test
  • Abnormality of retinal pigmentation1 test
  • Abnormality of the corpus callosum1 test
  • Abnormality of the foot2 tests
  • Abnormality of the genital system1 test
  • Abnormality of the hypothalamus-pituitary axis1 test
  • Abnormality of the mitral valve1 test
  • Abnormality of the palate1 test
  • Abnormality of the pinna1 test
  • Abnormality of the pleura1 test
  • Abnormality of the upper urinary tract1 test
  • Abnormality of the vitreous humor1 test
  • Abnormality of the voice1 test
  • Abnormality of visual evoked potentials1 test
  • ABri amyloidosis1 test
  • Absent speech1 test
  • Acatalasia1 test
  • Accelerated tumor formation, susceptibility to1 test
  • Acetyl-CoA: carboxylase deficiency1 test
  • Achondrogenesis type II3 tests
  • Achondrogenesis, type IA2 tests
  • Achondrogenesis, type IB2 tests
  • Achondroplasia4 tests
  • Achromatopsia1 test
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Achromatopsia 61 test
  • Acid phosphatase deficiency1 test
  • Acne inversa, familial, 31 test
  • Acrocallosal syndrome2 tests
  • Acrocephalosyndactyly type I2 tests
  • Acrodysostosis 1 with or without hormone resistance1 test
  • Acrodysostosis 2, with or without hormone resistance1 test
  • Acroerythrokeratoderma1 test
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromegaly, predisposition to, due to germline GPR101 mutation1 test
  • Acromelic frontonasal dysostosis1 test
  • Acromesomelic dysplasia, Demirhan type1 test
  • Acromesomelic dysplasia, Maroteaux type1 test
  • Acromicric dysplasia1 test
  • ACTH resistance1 test
  • Acute alcohol sensitivity1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
  • Acute intermittent porphyria1 test
  • Acute myeloid leukemia6 tests
  • Acute Recurrent Myoglobinuria2 tests
  • Acyl-CoA dehydrogenase family, member 9, deficiency of2 tests
  • Adams-Oliver syndrome 11 test
  • Adams-Oliver syndrome 21 test
  • Adams-Oliver syndrome 31 test
  • Adams-Oliver syndrome 41 test
  • Adams-Oliver syndrome 51 test
  • Adams-Oliver syndrome 61 test
  • ADan amyloidosis1 test
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenosine kinase deficiency1 test
  • Adenosine triphosphate, elevated, of erythrocytes1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adermatoglyphia1 test
  • Adrenal hypoplasia1 test
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1 test
  • Adrenocorticotropic hormone deficiency1 test
  • Adrenoleukodystrophy3 tests
  • Adult hypophosphatasia2 tests
  • Adult neuronal ceroid lipofuscinosis2 tests
  • ADULT syndrome1 test
  • Afibrinogenemia1 test
  • Afibrinogenemia, congenital3 tests
  • Agammaglobulinemia1 test
  • Agammaglobulinemia 2, autosomal recessive2 tests
  • Agammaglobulinemia 3, autosomal recessive2 tests
  • Agammaglobulinemia 4, autosomal recessive2 tests
  • Agammaglobulinemia 5, autosomal dominant2 tests
  • Agammaglobulinemia 6, autosomal recessive2 tests
  • Agammaglobulinemia 7, autosomal recessive2 tests
  • Age-related macular degeneration 111 test
  • Age-related macular degeneration 31 test
  • Age-related macular degeneration 61 test
  • Age-related macular degeneration 81 test
  • Agenesis of the corpus callosum with peripheral neuropathy2 tests
  • AICAR transformylase/IMP cyclohydrolase deficiency1 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi Goutieres syndrome 11 test
  • Aicardi Goutieres syndrome 21 test
  • Aicardi Goutieres syndrome 31 test
  • Aicardi Goutieres syndrome 41 test
  • Aicardi Goutieres syndrome 51 test
  • Aicardi-Goutieres syndrome 61 test
  • Aicardi-Goutieres syndrome 71 test
  • Al-Raqad syndrome1 test
  • Alacrima, achalasia, and mental retardation syndrome1 test
  • Alagille syndrome 11 test
  • Alagille syndrome 21 test
  • Alazami syndrome1 test
  • Albinism1 test
  • Albinism, ocular, with sensorineural deafness2 tests
  • Albinism, oculocutaneous, type V1 test
  • Alexander Disease1 test
  • ALG1-CDG1 test
  • ALG12-congenital disorder of glycosylation1 test
  • ALG2-CDG1 test
  • ALG3-CDG1 test
  • ALG8-CDG1 test
  • ALG9 congenital disorder of glycosylation1 test
  • Alkaptonuria1 test
  • Allan-Herndon-Dudley syndrome2 tests
  • Alopecia universalis1 test
  • alpha Thalassemia2 tests
  • Alpha-1-antitrypsin deficiency1 test
  • Alpha-2-macroglobulin deficiency1 test
  • Alpha-B crystallinopathy2 tests
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alpha-N-acetylgalactosaminidase deficiency type 12 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 21 test
  • Alpha-thalassemia/mental retardation syndrome3 tests
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
  • Alport syndrome 1, X-linked recessive2 tests
  • Alport syndrome, autosomal recessive1 test
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 21 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment1 test
  • Alzheimer disease1 test
  • Alzheimer disease 181 test
  • Alzheimer disease 21 test
  • Alzheimer disease, type 12 tests
  • Alzheimer disease, type 31 test
  • Alzheimer disease, type 41 test
  • Amelocerebrohypohidrotic syndrome1 test
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amelogenesis imperfecta, hypomaturation type IIA41 test
  • Amelogenesis imperfecta, hypomaturation type IIA51 test
  • Amelogenesis imperfecta, hypomaturation type, IIA11 test
  • Amelogenesis imperfecta, type 1E1 test
  • Amelogenesis imperfecta, type IA1 test
  • Amelogenesis imperfecta, type IC1 test
  • Amelogenesis imperfecta, type IF1 test
  • Amelogenesis imperfecta, type IH1 test
  • Amelogenesis imperfecta, type IIA21 test
  • Amelogenesis imperfecta, type IIA31 test
  • Amelogenesis imperfecta, type IV1 test
  • Amelotin deficiency1 test
  • Aminoaciduria1 test
  • Amish lethal microcephaly1 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyloidosis1 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis 16, juvenile1 test
  • Amyotrophic lateral sclerosis 171 test
  • Amyotrophic lateral sclerosis 181 test
  • Amyotrophic lateral sclerosis 211 test
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis type 14 tests
  • Amyotrophic lateral sclerosis type 101 test
  • Amyotrophic lateral sclerosis type 112 tests
  • Amyotrophic lateral sclerosis type 121 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic lateral sclerosis, susceptibility to1 test
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
  • Amyotrophy, hereditary neuralgic1 test
  • Anauxetic dysplasia 11 test
  • Androgen-binding protein deficiency1 test
  • Anemia of inadequate production1 test
  • Anemia without thromobocytopenia, X-linked1 test
  • Anemia, neonatal hemolytic, fatal and near-fatal1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
  • Anemia, sideroblastic, 12 tests
  • Anemia, sideroblastic, 2, pyridoxine-refractory2 tests
  • Anemia, sideroblastic, 41 test
  • Angelman syndrome5 tests
  • Angelman syndrome-like2 tests
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps3 tests
  • Anhaptoglobinemia1 test
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
  • Aniridia 12 tests
  • Anophthalmia1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 31 test
  • Anterior segment dysgenesis 71 test
  • Anteverted nares1 test
  • Antigen in Cartwright blood group system1 test
  • Antithrombin III deficiency1 test
  • Antley-Bixler syndrome1 test
  • Aortic aneurysm1 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 62 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic aneurysm, familial thoracic 82 tests
  • Aortic valve disease 11 test
  • Aortic valve disease 22 tests
  • Aplasia/Hypoplasia affecting the eye1 test
  • Aplasia/Hypoplasia of the cerebellum1 test
  • Aplasia/Hypoplasia of the corpus callosum1 test
  • Aplastic anemia3 tests
  • Apolipoprotein A-II deficiency1 test
  • Apolipoprotein C2 deficiency2 tests
  • Apparent mineralocorticoid excess1 test
  • Arboleda-Tham syndrome1 test
  • Areflexia1 test
  • Arginase deficiency1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Aromatase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy2 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 101 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 111 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 121 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 51 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Arrhythmogenic right ventricular dysplasia, familial 11 test
  • Arrhythmogenic right ventricular dysplasia, familial, 21 test
  • Arterial calcification, generalized, of infancy, 11 test
  • Arterial tortuosity syndrome4 tests
  • Arteriovenous malformation1 test
  • Arthrogryposis multiplex congenita2 tests
  • Arthrogryposis, mental retardation, and seizures1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 11 test
  • Arthrogryposis, renal dysfunction, and cholestasis 21 test
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Arts syndrome3 tests
  • Ascites1 test
  • Asparagine synthetase deficiency1 test
  • Aspartylglucosaminuria2 tests
  • Asperger syndrome X-linked 11 test
  • Asperger syndrome X-linked 22 tests
  • Asphyxiating thoracic dystrophy 22 tests
  • Asphyxiating thoracic dystrophy 42 tests
  • Asphyxiating thoracic dystrophy 52 tests
  • Ataxia1 test
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus1 test
  • Ataxia, sensory, autosomal dominant1 test
  • Ataxia, spastic, 1, autosomal dominant1 test
  • Ataxia, spastic, 2, autosomal recessive1 test
  • Ataxia, spastic, 3, autosomal recessive1 test
  • Ataxia, spastic, 4, autosomal recessive1 test
  • Ataxia-oculomotor apraxia 31 test
  • Ataxia-oculomotor apraxia 41 test
  • Ataxia-oculomotor apraxia type 11 test
  • Ataxia-telangiectasia syndrome3 tests
  • Ataxia-telangiectasia-like disorder1 test
  • Ataxia-telangiectasia-like disorder 12 tests
  • Atelosteogenesis type 12 tests
  • Atelosteogenesis type II1 test
  • Atelosteogenesis type III1 test
  • Atresia of the external auditory canal1 test
  • Atrial fibrillation, familial, 101 test
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 71 test
  • Atrial septal defect 21 test
  • Atrial septal defect 31 test
  • Atrial septal defect 41 test
  • Atrial septal defect 51 test
  • Atrial septal defect 61 test
  • Atrial septal defect 7 with or without atrioventricular conduction defects1 test
  • Atrial septal defect 81 test
  • Atrial septal defect 91 test
  • Atrichia with papular lesions1 test
  • Atrioventricular septal defect 41 test
  • Atrioventricular septal defect 51 test
  • Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
  • Atrophia bulborum hereditaria1 test
  • Attention deficit hyperactivity disorder4 tests
  • Atypical Gaucher Disease1 test
  • Atypical hemolytic uremic syndrome1 test
  • Atypical hemolytic-uremic syndrome 21 test
  • Atypical mycobacteriosis, familial, X-linked 21 test
  • Auditory neuropathy, autosomal dominant, 11 test
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 21 test
  • Autism 151 test
  • Autism 171 test
  • Autism spectrum disorder10 tests
  • Autism susceptibility 161 test
  • Autism susceptibility, X-linked 11 test
  • Autism susceptibility, X-linked 21 test
  • Autism susceptibility, X-linked 31 test
  • Autism, SETD2 related1 test
  • Autism, susceptibility to, 182 tests
  • Autism, susceptibility to, 191 test
  • Autism, susceptibility to, X-linked 12 tests
  • Autism, susceptibility to, X-linked 22 tests
  • Autism, susceptibility to, X-linked 31 test
  • Autism, susceptibility to, X-linked 42 tests
  • Autism, susceptibility to, X-linked 52 tests
  • Autism, susceptibility to, X-linked 61 test
  • Autistic disorder of childhood onset9 tests
  • Autoimmune lymphoproliferative syndrome1 test
  • Autoimmune lymphoproliferative syndrome 31 test
  • Autoimmune lymphoproliferative syndrome type 2B1 test
  • Autoimmune lymphoproliferative syndrome type V1 test
  • Autoimmune lymphoproliferative syndrome, type 1a1 test
  • Autoimmune lymphoproliferative syndrome, type 1b1 test
  • Autoimmune lymphoproliferative syndrome, type 2A1 test
  • Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
  • Autosomal dominant hypophosphatemic rickets1 test
  • Autosomal dominant inheritance2 tests
  • Autosomal dominant medullary cystic kidney disease with hyperuricemia2 tests
  • Autosomal dominant non-syndromic intellectual disability1 test
  • Autosomal dominant nonsyndromic deafness 171 test
  • Autosomal dominant nonsyndromic deafness 221 test
  • Autosomal dominant nonsyndromic deafness 2A1 test
  • Autosomal dominant nonsyndromic deafness 61 test
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant osteopetrosis 12 tests
  • Autosomal dominant osteopetrosis 21 test
  • Autosomal dominant polycystic kidney disease2 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 14 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 32 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 43 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 54 tests
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant torsion dystonia 41 test
  • Autosomal recessive agammaglobulinemia 11 test
  • Autosomal recessive axonal neuropathy with neuromyotonia3 tests
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 24 tests
  • Autosomal recessive congenital ichthyosis 31 test
  • Autosomal recessive congenital ichthyosis 4A2 tests
  • Autosomal recessive congenital ichthyosis 4B2 tests
  • Autosomal recessive congenital ichthyosis 52 tests
  • Autosomal recessive congenital ichthyosis 62 tests
  • Autosomal recessive congenital ichthyosis 82 tests
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 1B2 tests
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive cutis laxa type 3B1 test
  • Autosomal recessive cutis laxa type IA2 tests
  • Autosomal recessive deafness Type 1B1 test
  • Autosomal recessive DOPA responsive dystonia2 tests
  • Autosomal recessive hypophosphatemic bone disease1 test
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive multiple pterygium syndrome1 test
  • Autosomal recessive non-syndromic intellectual disability1 test
  • Autosomal recessive omodysplasia1 test
  • Autosomal recessive osteopetrosis 13 tests
  • Autosomal recessive osteopetrosis 22 tests
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 62 tests
  • Autosomal recessive osteopetrosis 72 tests
  • Autosomal recessive polycystic kidney disease3 tests
  • Autosomal recessive pseudohypoaldosteronism type 13 tests
  • Avascular necrosis of femoral head, primary, 11 test
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 31 test
  • Axial spondylometaphyseal dysplasia1 test
  • Axonal regeneration1 test
  • Azoospermia1 test
  • B-cell expansion with NFKB and T-cell anergy1 test
  • B4GALT1-CDG2 tests
  • Bailey-Bloch congenital myopathy1 test
  • Bainbridge-Ropers syndrome1 test
  • Baller-Gerold syndrome1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Baraitser-Winter syndrome1 test
  • Baraitser-Winter syndrome 11 test
  • Baraitser-Winter Syndrome 22 tests
  • Bardet-Biedl syndrome1 test
  • Bardet-Biedl syndrome 13 tests
  • Bardet-Biedl syndrome 101 test
  • Bardet-Biedl syndrome 111 test
  • Bardet-Biedl syndrome 121 test
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 142 tests
  • Bardet-Biedl syndrome 151 test
  • Bardet-Biedl syndrome 21 test
  • Bardet-Biedl syndrome 31 test
  • Bardet-Biedl syndrome 41 test
  • Bardet-Biedl syndrome 51 test
  • Bardet-Biedl syndrome 61 test
  • Bardet-Biedl syndrome 71 test
  • Bardet-Biedl syndrome 81 test
  • Bardet-Biedl syndrome 91 test
  • Bare lymphocyte syndrome 21 test
  • Bare lymphocyte syndrome type 2, complementation group A1 test
  • Bare lymphocyte syndrome, type II, complementation group c1 test
  • Bartsocas-Papas syndrome1 test
  • Bartter disease type 4a1 test
  • Bartter syndrome5 tests
  • Bartter syndrome type 31 test
  • Bartter syndrome, type 1, antenatal1 test
  • Bartter syndrome, type 2, antenatal1 test
  • Bartter syndrome, type 4b1 test
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Becker muscular dystrophy1 test
  • Beckwith-Wiedemann syndrome2 tests
  • Benign hereditary chorea1 test
  • Benign neoplasm of the central nervous system1 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy3 tests
  • Bent bone dysplasia syndrome2 tests
  • Bernard-Soulier syndrome type C1 test
  • Bernard-Soulier syndrome, type A11 test
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • Bernard-Soulier syndrome, type B1 test
  • Bestrophinopathy, autosomal recessive1 test
  • Beta-D-mannosidosis2 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
  • Bethlem myopathy3 tests
  • Bethlem myopathy 11 test
  • Bethlem myopathy 21 test
  • BH4-deficient hyperphenylalaninemia A1 test
  • Bicuspid aortic valve1 test
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifid scrotum1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Bile acid malabsorption, primary1 test
  • Bile acid synthesis defect, congenital, 31 test
  • Bile acid synthesis defect, congenital, 51 test
  • Biotin-responsive basal ganglia disease1 test
  • Biotinidase deficiency1 test
  • Blau syndrome2 tests
  • Bleeding disorder, platelet-type, 211 test
  • Blepharophimosis1 test
  • Blepharophimosis, ptosis, and epicanthus inversus1 test
  • BLOOD GROUP--LUTHERAN INHIBITOR1 test
  • Bloom syndrome1 test
  • BNAR syndrome1 test
  • Bohring-Opitz syndrome1 test
  • Bone fragility with contractures, arterial rupture, and deafness1 test
  • Bone marrow failure syndrome 11 test
  • Bone marrow failure syndrome 21 test
  • Bone marrow hypocellularity1 test
  • Bone mineral density QTL18, osteoporosis1 test
  • Boomerang dysplasia1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Bothnia retinal dystrophy1 test
  • Brachycephaly1 test
  • Brachydactyly type A22 tests
  • Brachydactyly type B11 test
  • Brachydactyly type E11 test
  • Brachydactyly, type a1, c1 test
  • Brachydactyly-syndactyly syndrome1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia2 tests
  • Brain atrophy2 tests
  • Brain small vessel disease with hemorrhage3 tests
  • Branched-chain aminotransferase 1 deficiency2 tests
  • Branched-chain aminotransferase 2 deficiency1 test
  • Branched-chain keto acid dehydrogenase kinase deficiency1 test
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome 12 tests
  • Branchiootorenal Spectrum Disorders1 test
  • Branchiootorenal Syndrome 11 test
  • Branchiootorenal syndrome 21 test
  • Breast cancer, susceptibility to4 tests
  • Breast-ovarian cancer, familial 12 tests
  • Breast-ovarian cancer, familial 21 test
  • Breast-ovarian cancer, familial 42 tests
  • Brittle cornea syndrome1 test
  • Brittle cornea syndrome 11 test
  • Brittle cornea syndrome 21 test
  • Broad forehead1 test
  • Broad-based gait1 test
  • Brody myopathy2 tests
  • Bronchiectasis with or without elevated sweat chloride 21 test
  • Brooke-Spiegler syndrome1 test
  • Brown-Vialetto-Van Laere syndrome 11 test
  • Brown-Vialetto-Van Laere syndrome 21 test
  • Bruck syndrome1 test
  • Brugada syndrome2 tests
  • Brugada syndrome 11 test
  • Brugada syndrome 22 tests
  • Brugada syndrome 33 tests
  • Brugada syndrome 41 test
  • Brugada syndrome 51 test
  • Brugada syndrome 62 tests
  • Brugada syndrome 71 test
  • Brugada syndrome 81 test
  • Brugada syndrome 91 test
  • Brunner syndrome1 test
  • Budd-Chiari syndrome2 tests
  • Bullous ichthyosiform erythroderma2 tests
  • C syndrome1 test
  • C1q deficiency1 test
  • C3 deficiency1 test
  • Camptodactyly1 test
  • Camptodactyly of finger1 test
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome2 tests
  • Camptomelic dysplasia2 tests
  • Cancer of cervix1 test
  • Capillary malformation-arteriovenous malformation1 test
  • CARASIL syndrome1 test
  • Carbonic anhydrase VA deficiency, hyperammonemia due to1 test
  • Carcinoid tumor of intestine1 test
  • Carcinoma of colon3 tests
  • Cardiac arrhythmia2 tests
  • Cardiac valvular dysplasia, X-linked2 tests
  • Cardio-facio-cutaneous syndrome2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 31 test
  • Cardiofaciocutaneous syndrome 11 test
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiofaciocutaneous syndrome 32 tests
  • Cardiofaciocutaneous syndrome 42 tests
  • Cardiomyopathy3 tests
  • Cardiomyopathy, dilated, 1u1 test
  • Cardiomyopathy, dilated, 2b1 test
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis1 test
  • Cardiomyopathy, hypertrophic, 241 test
  • Cardiomyopathy, hypertrophic, midventricular, digenic1 test
  • Carney complex, type 11 test
  • Carney-Stratakis syndrome1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyltransferase 1A deficiency1 test
  • Carnitine palmitoyltransferase II deficiency, infantile3 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal3 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced2 tests
  • Carotid intimal medial thickness 11 test
  • Carpal tunnel syndrome1 test
  • Carpenter syndrome1 test
  • Carpenter syndrome 21 test
  • Cataract2 tests
  • Cataract 11 test
  • Cataract 111 test
  • Cataract 16, multiple types1 test
  • Cataract 181 test
  • Cataract 21, multiple types1 test
  • Cataract 23, multiple types1 test
  • Cataract 38, autosomal recessive1 test
  • Cataract 401 test
  • Cataract 411 test
  • Cataract 431 test
  • Cataract 5 multiple types1 test
  • Cataract, autosomal dominant1 test
  • Cataract, autosomal recessive congenital 11 test
  • Cataract, autosomal recessive congenital 41 test
  • Cataract, congenital nuclear, autosomal recessive 21 test
  • Cataract, congenital nuclear, autosomal recessive 31 test
  • Cataract, cortical pulverulent, late-onset1 test
  • Cataract-intellectual disability-hypogonadism syndrome2 tests
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia1 test
  • Catechol-o-methyltransferase deficiency1 test
  • Catecholaminergic polymorphic ventricular tachycardia2 tests
  • Catecholaminergic polymorphic ventricular tachycardia type 11 test
  • Caudal regression syndrome1 test
  • CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy1 test
  • CEDNIK syndrome3 tests
  • Central core myopathy1 test
  • Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency1 test
  • Cerebellar ataxia1 test
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant2 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 22 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 31 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41 test
  • Cerebellar ataxia, nonprogressive, with mental retardation1 test
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
  • Cerebellar atrophy1 test
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 11 test
  • Cerebral amyloid angiopathy1 test
  • Cerebral amyloid angiopathy, APP-related1 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cerebral cavernous malformation1 test
  • Cerebral cavernous malformations 11 test
  • Cerebral cavernous malformations 21 test
  • Cerebral cavernous malformations 31 test
  • Cerebral cortical atrophy1 test
  • Cerebral folate transport deficiency1 test
  • Cerebral hypomyelination1 test
  • Cerebral infarction, susceptibility to1 test
  • Cerebral palsy, spastic quadriplegic, 11 test
  • Cerebral palsy, spastic quadriplegic, 21 test
  • Cerebrooculofacioskeletal syndrome 11 test
  • Cerebrooculofacioskeletal syndrome 41 test
  • Cerebroretinal microangiopathy with calcifications and cysts 11 test
  • Ceroid lipofuscinosis neuronal 21 test
  • Ceroid lipofuscinosis, neuronal, 111 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease2 tests
  • Charcot-Marie-Tooth disease and deafness2 tests
  • Charcot-Marie-Tooth disease axonal type 2C2 tests
  • Charcot-Marie-Tooth disease axonal type 2F2 tests
  • Charcot-Marie-Tooth disease axonal type 2K2 tests
  • Charcot-Marie-Tooth disease dominant intermediate d2 tests
  • Charcot-Marie-Tooth disease type 2B2 tests
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Charcot-Marie-Tooth disease type 2B22 tests
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2E2 tests
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J2 tests
  • Charcot-Marie-Tooth disease type 2P2 tests
  • Charcot-Marie-Tooth disease, axonal type1 test
  • Charcot-Marie-Tooth disease, axonal, type 201 test
  • Charcot-Marie-Tooth disease, axonal, type 2O2 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4F2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate B2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate C2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate E2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate F1 test
  • Charcot-Marie-Tooth disease, recessive intermediate A1 test
  • Charcot-Marie-Tooth disease, recessive intermediate B1 test
  • Charcot-Marie-Tooth disease, recessive intermediate c1 test
  • Charcot-Marie-Tooth disease, recessive intermediate d1 test
  • Charcot-Marie-Tooth disease, type 1C2 tests
  • Charcot-Marie-Tooth disease, type 2A12 tests
  • Charcot-Marie-Tooth disease, type 2A2A2 tests
  • Charcot-Marie-Tooth disease, type 2L2 tests
  • Charcot-Marie-Tooth disease, type 2N2 tests
  • Charcot-Marie-Tooth disease, type 4A1 test
  • Charcot-Marie-Tooth disease, type 4B12 tests
  • Charcot-Marie-Tooth disease, type 4B22 tests
  • Charcot-Marie-Tooth disease, type 4C2 tests
  • Charcot-Marie-Tooth disease, type 4D2 tests
  • Charcot-Marie-Tooth disease, type 4H2 tests
  • Charcot-Marie-Tooth disease, type 4J2 tests
  • Charcot-Marie-Tooth disease, type IA2 tests
  • Charcot-Marie-Tooth disease, X-linked recessive, type 52 tests
  • Charcot-Marie-Tooth Neuropathy X Type 12 tests
  • CHARGE association3 tests
  • Charlevoix-Saguenay spastic ataxia1 test
  • Child syndrome3 tests
  • Childhood absence epilepsy1 test
  • Childhood hypophosphatasia2 tests
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1 test
  • CHIME syndrome1 test
  • Choanal atresia and lymphedema1 test
  • Cholestanol storage disease1 test
  • Cholestasis, benign recurrent intrahepatic 11 test
  • Cholestasis, infantile, NR1H4 related1 test
  • Cholestasis, intrahepatic, of pregnancy 31 test
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, progressive familial intrahepatic 11 test
  • Cholesterol monooxygenase (side-chain cleaving) deficiency1 test
  • Cholesteryl ester storage disease1 test
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type3 tests
  • Chondrodysplasia punctata 2 X-linked dominant2 tests
  • Chondrodysplasia with joint dislocations, GPAPP type1 test
  • Chondrosarcoma1 test
  • Choreoacanthocytosis1 test
  • Choreoathetosis1 test
  • Chorioretinal abnormality1 test
  • Chorioretinal coloboma1 test
  • Choroidal dystrophy, central areolar 21 test
  • Choroideremia1 test
  • Christianson syndrome2 tests
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chromosome 2q37 deletion syndrome1 test
  • Chromosome Xq28 deletion syndrome1 test
  • Chronic granulomatous disease1 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
  • Chronic granulomatous disease, X-linked1 test
  • Chudley-McCullough syndrome2 tests
  • Chylomicron retention disease1 test
  • Chédiak-Higashi syndrome1 test
  • Ciliary dyskinesia, primary, 101 test
  • Ciliary dyskinesia, primary, 111 test
  • Ciliary dyskinesia, primary, 121 test
  • Ciliary dyskinesia, primary, 131 test
  • Ciliary dyskinesia, primary, 141 test
  • Ciliary dyskinesia, primary, 151 test
  • Ciliary dyskinesia, primary, 161 test
  • Ciliary dyskinesia, primary, 171 test
  • Ciliary dyskinesia, primary, 181 test
  • Ciliary dyskinesia, primary, 191 test
  • Ciliary dyskinesia, primary, 21 test
  • Ciliary dyskinesia, primary, 201 test
  • Ciliary dyskinesia, primary, 261 test
  • Ciliary dyskinesia, primary, 272 tests
  • Ciliary dyskinesia, primary, 281 test
  • Ciliary dyskinesia, primary, 291 test
  • Ciliary dyskinesia, primary, 31 test
  • Ciliary dyskinesia, primary, 51 test
  • Ciliary dyskinesia, primary, 61 test
  • Ciliary dyskinesia, primary, 71 test
  • Ciliary dyskinesia, primary, 91 test
  • Cirrhosis of liver1 test
  • Citrin deficiency1 test
  • Citrullinemia type I1 test
  • CK syndrome2 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic homocystinuria2 tests
  • Cleft lip/palate1 test
  • Cleft palate1 test
  • Cleft palate, cardiac defects, and mental retardation1 test
  • Cleidocranial dysostosis1 test
  • Clinodactyly1 test
  • Clubbing1 test
  • Clubfoot4 tests
  • Coarctation of aorta1 test
  • Cobalamin C disease1 test
  • Cockayne syndrome B1 test
  • Cockayne syndrome type A1 test
  • CODAS syndrome1 test
  • Coenzyme Q10 deficiency, primary 13 tests
  • Coenzyme Q10 deficiency, primary, 31 test
  • Coenzyme Q10 deficiency, primary, 41 test
  • Coenzyme Q10 deficiency, primary, 61 test
  • Coenzyme Q10 deficiency, primary, 71 test
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome1 test
  • Coffin-Siris syndrome 13 tests
  • COG1 congenital disorder of glycosylation2 tests
  • COG7 congenital disorder of glycosylation2 tests
  • Cognitive impairment2 tests
  • Cohen syndrome1 test
  • Colchicine resistance1 test
  • Cold-induced sweating syndrome1 test
  • Cold-induced sweating syndrome 21 test
  • Cole disease1 test
  • Cole-Carpenter syndrome 11 test
  • Coloboma of optic nerve (disease)2 tests
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1 test
  • Combined cellular and humoral immune defects with granulomas2 tests
  • Combined deficiency of sialidase AND beta galactosidase2 tests
  • Combined immunodeficiency due to ORAI1 deficiency2 tests
  • Combined immunodeficiency due to STIM1 deficiency2 tests
  • Combined immunodeficiency due to ZAP70 deficiency2 tests
  • Combined immunodeficiency, X-linked1 test
  • Combined immunodeficiency, X-linked, moderate1 test
  • Combined malonic and methylmalonic aciduria1 test
  • Combined oxidative phosphorylation deficiency 12 tests
  • Combined oxidative phosphorylation deficiency 101 test
  • Combined oxidative phosphorylation deficiency 111 test
  • Combined oxidative phosphorylation deficiency 121 test
  • Combined oxidative phosphorylation deficiency 131 test
  • Combined oxidative phosphorylation deficiency 141 test
  • Combined oxidative phosphorylation deficiency 151 test
  • Combined oxidative phosphorylation deficiency 161 test
  • Combined oxidative phosphorylation deficiency 171 test
  • Combined oxidative phosphorylation deficiency 181 test
  • Combined oxidative phosphorylation deficiency 191 test
  • Combined oxidative phosphorylation deficiency 21 test
  • Combined oxidative phosphorylation deficiency 201 test
  • Combined oxidative phosphorylation deficiency 211 test
  • Combined oxidative phosphorylation deficiency 221 test
  • Combined oxidative phosphorylation deficiency 231 test
  • Combined oxidative phosphorylation deficiency 241 test
  • Combined oxidative phosphorylation deficiency 251 test
  • Combined oxidative phosphorylation deficiency 261 test
  • Combined oxidative phosphorylation deficiency 31 test
  • Combined oxidative phosphorylation deficiency 391 test
  • Combined oxidative phosphorylation deficiency 41 test
  • Combined oxidative phosphorylation deficiency 51 test
  • Combined oxidative phosphorylation deficiency 62 tests
  • Combined oxidative phosphorylation deficiency 71 test
  • Combined oxidative phosphorylation deficiency 81 test
  • Combined oxidative phosphorylation deficiency 91 test
  • Combined saposin deficiency2 tests
  • Common variable agammaglobulinemia1 test
  • Common variable immunodeficiency 12 tests
  • Common variable immunodeficiency 102 tests
  • Common variable immunodeficiency 23 tests
  • Common variable immunodeficiency 32 tests
  • Common variable immunodeficiency 42 tests
  • Common variable immunodeficiency 51 test
  • Common variable immunodeficiency 62 tests
  • Common variable immunodeficiency 72 tests
  • Common variable immunodeficiency 8, with autoimmunity2 tests
  • Complement component 2 deficiency1 test
  • Complement component 5 deficiency1 test
  • Complement component 7 deficiency1 test
  • Complete trisomy 13 syndrome1 test
  • Complete trisomy 18 syndrome1 test
  • Complete trisomy 21 syndrome1 test
  • Conductive hearing impairment1 test
  • Cone dystrophy1 test
  • Cone dystrophy 31 test
  • Cone dystrophy 41 test
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy2 tests
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 151 test
  • Cone-rod dystrophy 171 test
  • Cone-rod dystrophy 21 test
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Congenital adrenal hyperplasia1 test
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital aniridia1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital bile acid synthesis defect 11 test
  • Congenital bile acid synthesis defect 21 test
  • Congenital bile acid synthesis defect 41 test
  • Congenital brain dysgenesis due to glutamine synthetase deficiency1 test
  • Congenital cataract2 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome2 tests
  • Congenital central hypoventilation11 tests
  • Congenital cerebellar hypoplasia1 test
  • Congenital contractural arachnodactyly2 tests
  • Congenital defect of folate absorption1 test
  • Congenital disorder of glycosylation1 test
  • Congenital disorder of glycosylation type 1C2 tests
  • Congenital disorder of glycosylation type 1E2 tests
  • Congenital disorder of glycosylation type 1M2 tests
  • Congenital disorder of glycosylation type 1N1 test
  • Congenital disorder of glycosylation type 1O1 test
  • Congenital disorder of glycosylation type 1P1 test
  • Congenital disorder of glycosylation type 1Q2 tests
  • Congenital disorder of glycosylation type 1t2 tests
  • Congenital disorder of glycosylation type 1u1 test
  • Congenital disorder of glycosylation type 1w1 test
  • Congenital disorder of glycosylation type 1y1 test
  • Congenital disorder of glycosylation type 2B1 test
  • Congenital disorder of glycosylation type 2F2 tests
  • Congenital disorder of glycosylation type 2H2 tests
  • Congenital disorder of glycosylation type 2i1 test
  • Congenital disorder of glycosylation type 2J1 test
  • Congenital disorder of glycosylation type 2k1 test
  • Congenital disorder of glycosylation type 2L1 test
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation, type Ia1 test
  • Congenital disorder of glycosylation, type IIa2 tests
  • Congenital dyserythropoietic anemia1 test
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital dyserythropoietic anemia, type III1 test
  • Congenital dyserythropoietic anemia, type IV1 test
  • Congenital erythropoietic porphyria1 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 22 tests
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart defects1 test
  • Congenital heart defects and ectodermal dysplasia1 test
  • Congenital heart defects, multiple types, 22 tests
  • Congenital heart defects, multiple types, 51 test
  • Congenital hereditary endothelial dystrophy of the cornea1 test
  • Congenital hydrocephalus 11 test
  • Congenital hyperammonemia, type I1 test
  • Congenital hypomyelinating neuropathy 1, autosomal recessive3 tests
  • Congenital ichthyosiform erythroderma1 test
  • Congenital lactase deficiency1 test
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1 test
  • Congenital microvillous atrophy1 test
  • Congenital muscular dystrophy2 tests
  • Congenital muscular dystrophy, LMNA-related3 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B52 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A52 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A22 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A42 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A71 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B12 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B22 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B32 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
  • Congenital muscular hypertrophy-cerebral syndrome2 tests
  • Congenital myasthenic syndrome5 tests
  • Congenital myasthenic syndrome 121 test
  • Congenital myasthenic syndrome 1B, fast-channel1 test
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myasthenic syndrome, acetazolamide-responsive1 test
  • Congenital myopathy1 test
  • Congenital myopathy with fiber type disproportion2 tests
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital neutropenia1 test
  • Congenital ocular coloboma3 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Congenital ptosis1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers3 tests
  • Congenital stationary night blindness, autosomal dominant 11 test
  • Congenital stationary night blindness, autosomal dominant 21 test
  • Congenital stationary night blindness, autosomal dominant 31 test
  • Congenital stationary night blindness, type 1A1 test
  • Congenital stationary night blindness, type 1B1 test
  • Congenital stationary night blindness, type 1C1 test
  • Congenital stationary night blindness, type 1E1 test
  • Congenital stationary night blindness, type 2A1 test
  • Congenital stationary night blindness, type 2B1 test
  • Coproporphyria1 test
  • Corneal dystrophy, Fuchs endothelial, 31 test
  • Corneal epithelial dystrophy1 test
  • Cornelia de Lange syndrome 12 tests
  • Cornelia de Lange syndrome 32 tests
  • Cornelia de Lange syndrome 42 tests
  • Cornelia de Lange syndrome 52 tests
  • Coronary artery disease, susceptibility to1 test
  • Coronary heart disease 63 tests
  • Corpus callosum agenesis-abnormal genitalia syndrome2 tests
  • Corpus callosum, agenesis of1 test
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia1 test
  • Corpus callosum, partial agenesis of, X-linked1 test
  • Cortical dysplasia1 test
  • Cortical dysplasia, complex, with other brain malformations2 tests
  • Cortical dysplasia, complex, with other brain malformations 13 tests
  • Cortical dysplasia, complex, with other brain malformations 23 tests
  • Cortical dysplasia, complex, with other brain malformations 31 test
  • Cortical dysplasia, complex, with other brain malformations 51 test
  • Cortical gyral simplification1 test
  • Cortical malformations, occipital2 tests
  • Corticosterone 18-monooxygenase deficiency1 test
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Costello syndrome3 tests
  • Cough1 test
  • Cowchock syndrome1 test
  • Cowden syndrome 12 tests
  • Cowden syndrome 31 test
  • Cowden syndrome 52 tests
  • Cowden syndrome 61 test
  • Coxa plana1 test
  • Craniodiaphyseal dysplasia, autosomal dominant1 test
  • Cranioectodermal dysplasia 12 tests
  • Cranioectodermal dysplasia 22 tests
  • Cranioectodermal dysplasia 32 tests
  • Cranioectodermal dysplasia 42 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1 test
  • Craniofacial-skeletal-dermatologic dysplasia1 test
  • Craniofrontonasal syndrome1 test
  • Craniometaphyseal dysplasia1 test
  • Craniometaphyseal dysplasia, autosomal dominant1 test
  • Craniometaphyseal dysplasia, autosomal recessive1 test
  • Craniosynostosis 13 tests
  • Craniosynostosis 21 test
  • Craniosynostosis 32 tests
  • Craniosynostosis 41 test
  • Craniosynostosis 61 test
  • Craniosynostosis and dental anomalies1 test
  • Craniosynostosis, nonspecific1 test
  • Creatine transporter deficiency3 tests
  • Crigler-Najjar syndrome type 11 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome2 tests
  • Crouzon syndrome with acanthosis nigricans3 tests
  • Cryptophthalmos syndrome3 tests
  • Cryptorchidism3 tests
  • Currarino triad1 test
  • Curry-Hall syndrome1 test
  • Cutaneous finger syndactyly1 test
  • Cutaneous malignant melanoma 11 test
  • Cutaneous malignant melanoma 21 test
  • Cutaneous malignant melanoma 31 test
  • Cutaneous malignant melanoma 61 test
  • Cutaneous telangiectasia and cancer syndrome, familial1 test
  • Cutis laxa1 test
  • Cutis laxa with osteodystrophy3 tests
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities2 tests
  • Cutis laxa, autosomal dominant1 test
  • Cutis laxa, autosomal dominant 11 test
  • Cutis laxa, autosomal dominant 21 test
  • Cutis laxa, autosomal recessive IIIA2 tests
  • Cutis laxa, X-linked3 tests
  • Cyanosis, transient neonatal1 test
  • Cylindromatosis, familial1 test
  • CYP2C19-related poor drug metabolism1 test
  • Cystathioninuria1 test
  • Cystic fibrosis2 tests
  • Cystinuria3 tests
  • Czech dysplasia, metatarsal type2 tests
  • D-2-hydroxyglutaric aciduria 11 test
  • D-2-hydroxyglutaric aciduria 21 test
  • D-Glyceric aciduria1 test
  • Dalmatian hypouricemia1 test
  • Dandy-walker malformation with occipital cephalocele, autosomal dominant1 test
  • Dandy-Walker syndrome1 test
  • Danon disease3 tests
  • De Lange syndrome1 test
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness dystonia syndrome3 tests
  • Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
  • Deafness, autosomal dominant 11 test
  • Deafness, autosomal dominant 101 test
  • Deafness, autosomal dominant 111 test
  • Deafness, autosomal dominant 121 test
  • Deafness, autosomal dominant 131 test
  • Deafness, autosomal dominant 151 test
  • Deafness, autosomal dominant 202 tests
  • Deafness, autosomal dominant 231 test
  • Deafness, autosomal dominant 251 test
  • Deafness, autosomal dominant 281 test
  • Deafness, autosomal dominant 2b1 test
  • Deafness, autosomal dominant 361 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness, autosomal dominant 3a1 test
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal dominant 41 test
  • Deafness, autosomal dominant 401 test
  • Deafness, autosomal dominant 441 test
  • Deafness, autosomal dominant 481 test
  • Deafness, autosomal dominant 4b1 test
  • Deafness, autosomal dominant 51 test
  • Deafness, autosomal dominant 501 test
  • Deafness, autosomal dominant 521 test
  • Deafness, autosomal dominant 641 test
  • Deafness, autosomal dominant 651 test
  • Deafness, autosomal dominant 91 test
  • Deafness, autosomal recessive2 tests
  • Deafness, autosomal recessive 121 test
  • Deafness, autosomal recessive 151 test
  • Deafness, autosomal recessive 161 test
  • Deafness, autosomal recessive 181 test
  • Deafness, autosomal recessive 1A1 test
  • Deafness, autosomal recessive 1b1 test
  • Deafness, autosomal recessive 21 test
  • Deafness, autosomal recessive 221 test
  • Deafness, autosomal recessive 231 test
  • Deafness, autosomal recessive 241 test
  • Deafness, autosomal recessive 251 test
  • Deafness, autosomal recessive 281 test
  • Deafness, autosomal recessive 291 test
  • Deafness, autosomal recessive 31 test
  • Deafness, autosomal recessive 301 test
  • Deafness, autosomal recessive 311 test
  • Deafness, autosomal recessive 351 test
  • Deafness, autosomal recessive 361 test
  • Deafness, autosomal recessive 391 test
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1 test
  • Deafness, autosomal recessive 421 test
  • Deafness, autosomal recessive 481 test
  • Deafness, autosomal recessive 491 test
  • Deafness, autosomal recessive 531 test
  • Deafness, autosomal recessive 591 test
  • Deafness, autosomal recessive 61 test
  • Deafness, autosomal recessive 611 test
  • Deafness, autosomal recessive 631 test
  • Deafness, autosomal recessive 661 test
  • Deafness, autosomal recessive 671 test
  • Deafness, autosomal recessive 71 test
  • Deafness, autosomal recessive 701 test
  • Deafness, autosomal recessive 741 test
  • Deafness, autosomal recessive 761 test
  • Deafness, autosomal recessive 771 test
  • Deafness, autosomal recessive 791 test
  • Deafness, autosomal recessive 81 test
  • Deafness, autosomal recessive 841 test
  • Deafness, autosomal recessive 861 test
  • Deafness, autosomal recessive 891 test
  • Deafness, autosomal recessive 91 test
  • Deafness, autosomal recessive 911 test
  • Deafness, autosomal recessive 931 test
  • Deafness, mitochondrial, modifier of1 test
  • Deafness, X-linked 11 test
  • Deafness, X-linked 21 test
  • Deafness, X-linked 41 test
  • Deafness, X-linked 51 test
  • Deafness, X-linked 61 test
  • Deafness-infertility syndrome2 tests
  • Decreased antibody level in blood1 test
  • Decreased circulating high-density lipoprotein levels1 test
  • Decreased fetal movement1 test
  • Decreased liver function1 test
  • Decreased muscle mass2 tests
  • Decreased number of peripheral myelinated nerve fibers1 test
  • Decreased plasma carnitine1 test
  • Decreased testicular size1 test
  • Deeply set eye1 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of alpha-mannosidase2 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase1 test
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of butyrylcholine esterase1 test
  • Deficiency of galactokinase1 test
  • Deficiency of glycerol kinase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase1 test
  • Deficiency of iodide peroxidase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of phosphoserine phosphatase1 test
  • Deficiency of pyrroline-5-carboxylate reductase1 test
  • Deficiency of ribose-5-phosphate isomerase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Deficiency of steroid 17-alpha-monooxygenase1 test
  • Deficiency of transaldolase1 test
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
  • Dejerine-Sottas disease7 tests
  • Delayed eruption of teeth1 test
  • Delayed myelination1 test
  • Delayed speech and language development2 tests
  • delta Thalassemia1 test
  • Delta-beta thalassemia1 test
  • Dementia, Lewy body, susceptibility to1 test
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1 test
  • Dent disease1 test
  • Dent disease type 21 test
  • Dental malocclusion1 test
  • Denticles1 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Depressed nasal bridge1 test
  • Dermatitis, atopic, 21 test
  • Dermatofibrosis lenticularis disseminata1 test
  • Dermatopathia pigmentosa reticularis1 test
  • Desanto-shinawi syndrome1 test
  • Desbuquois dysplasia 11 test
  • Desbuquois dysplasia 21 test
  • Desmoid disease, hereditary1 test
  • Desmosterolosis2 tests
  • Developmental and epileptic encephalopathy 942 tests
  • Developmental and epileptic encephalopathy, 671 test
  • Developmental and epileptic encephalopathy, 771 test
  • Developmental malformations-deafness-dystonia syndrome2 tests
  • Diabetes insipidus1 test
  • Diabetes mellitus type 11 test
  • Diabetes mellitus, insulin-dependent, 201 test
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis1 test
  • Diamond-Blackfan anemia1 test
  • Diamond-Blackfan anemia 11 test
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 111 test
  • Diamond-Blackfan anemia 121 test
  • Diamond-Blackfan anemia 131 test
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 31 test
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 61 test
  • Diamond-Blackfan anemia 71 test
  • Diamond-Blackfan anemia 81 test
  • Diamond-Blackfan anemia 91 test
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia2 tests
  • Diaphyseal medullary stenosis-bone malignancy syndrome3 tests
  • Diarrhea 3, secretory sodium, congenital, syndromic1 test
  • Diarrhea 4, malabsorptive, congenital1 test
  • Diarrhea 61 test
  • Diastrophic dysplasia1 test
  • Difficulty climbing stairs1 test
  • Difficulty walking1 test
  • DiGeorge Syndrome2 tests
  • Digital arthropathy-brachydactyly, familial1 test
  • Dihydropteridine reductase deficiency1 test
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1AA1 test
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C1 test
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1KK1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1LL1 test
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X2 tests
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 3B1 test
  • Dilated cardiomyopathy with woolly hair and keratoderma1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
  • Dimethylglycine dehydrogenase deficiency1 test
  • Disorder due cytochrome p450 CYP1A21 test
  • Disorder of fatty acid metabolism1 test
  • Disorder of the urea cycle metabolism1 test
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
  • Distal arthrogryposis type 1A1 test
  • Distal arthrogryposis type 1B1 test
  • Distal arthrogryposis type 2B3 tests
  • Distal arthrogryposis type 5D1 test
  • Distal hereditary motor neuronopathy type 2A2 tests
  • Distal hereditary motor neuronopathy type 2B2 tests
  • Distal hereditary motor neuronopathy type 53 tests
  • Distal hereditary motor neuronopathy type 5B1 test
  • Distal hereditary motor neuronopathy type 7B1 test
  • Distal myopathy, Tateyama type1 test
  • Distal sensory impairment1 test
  • Distal spinal muscular atrophy, autosomal recessive 42 tests
  • Distal spinal muscular atrophy, congenital nonprogressive1 test
  • Distal spinal muscular atrophy, X-linked 32 tests
  • Distichiasis-lymphedema syndrome1 test
  • Donnai-Barrow syndrome1 test
  • DOORS syndrome1 test
  • Dopa-responsive dystonia1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Downturned corners of mouth1 test
  • Doyne honeycomb retinal dystrophy1 test
  • DPAGT1-CDG2 tests
  • Drash syndrome1 test
  • Dravet syndrome, modifier of1 test
  • Duane retraction syndrome3 tests
  • Dubin-Johnson syndrome1 test
  • Duchenne muscular dystrophy1 test
  • Dyggve-Melchior-Clausen syndrome1 test
  • Dysarthria1 test
  • Dyschromatosis universalis hereditaria 31 test
  • Dysequilibrium syndrome1 test
  • Dyskeratosis congenita autosomal recessive 11 test
  • Dyskeratosis congenita, autosomal dominant 11 test
  • Dyskeratosis congenita, autosomal dominant, 21 test
  • Dyskeratosis congenita, autosomal recessive 21 test
  • Dyskeratosis congenita, autosomal recessive 61 test
  • Dyskeratosis congenita, autosomal recessive 71 test
  • Dyskeratosis congenita, autosomal recessive, 51 test
  • Dyskeratosis congenita, X-linked1 test
  • Dyskinesia, familial, with facial myokymia1 test
  • Dyskinesia, limb and orofacial, infantile-onset1 test
  • Dysphagia1 test
  • Dysphonia1 test
  • Dyspnea1 test
  • Dystonia2 tests
  • Dystonia 11 test
  • Dystonia 122 tests
  • Dystonia 162 tests
  • Dystonia 231 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 26, myoclonic1 test
  • Dystonia 271 test
  • Dystonia 51 test
  • Dystransthyretinemic euthyroidal hyperthyroxinemia1 test
  • Dystrophic epidermolysis bullosa1 test
  • Early infantile epileptic encephalopathy 101 test
  • Early infantile epileptic encephalopathy 112 tests
  • Early infantile epileptic encephalopathy 121 test
  • Early infantile epileptic encephalopathy 131 test
  • Early infantile epileptic encephalopathy 141 test
  • Early infantile epileptic encephalopathy 151 test
  • Early infantile epileptic encephalopathy 161 test
  • Early infantile epileptic encephalopathy 171 test
  • Early infantile epileptic encephalopathy 22 tests
  • Early infantile epileptic encephalopathy 211 test
  • Early infantile epileptic encephalopathy 41 test
  • Early infantile epileptic encephalopathy 51 test
  • Early infantile epileptic encephalopathy 71 test
  • Early infantile epileptic encephalopathy 81 test
  • Early infantile epileptic encephalopathy 92 tests
  • Early myoclonic encephalopathy1 test
  • Early-onset parkinsonism-intellectual disability syndrome1 test
  • EAST syndrome1 test
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal3 tests
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 4, hair/nail type1 test
  • Ectodermal dysplasia and immunodeficiency 13 tests
  • Ectodermal dysplasia and immunodeficiency 22 tests
  • Ectopia lentis 2, isolated, autosomal recessive1 test
  • Ectopia lentis et pupillae1 test
  • Ectopia lentis, isolated, autosomal dominant1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32 tests
  • EEG abnormality1 test
  • EEM syndrome2 tests
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome classic type 22 tests
  • Ehlers-Danlos syndrome dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, progeroid type, 22 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 12 tests
  • Ehlers-Danlos syndrome, type 33 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Ehlers-Danlos syndrome, type 7A2 tests
  • Ehlers-Danlos syndrome, type 7B2 tests
  • Eichsfeld type congenital muscular dystrophy1 test
  • Elevated hepatic transaminases1 test
  • Elevated serum creatine phosphokinase3 tests
  • Elliptocytosis1 test
  • Ellis-van Creveld syndrome3 tests
  • Emery-Dreifuss muscular dystrophy1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 62 tests
  • EMG abnormality1 test
  • Encephalocele1 test
  • Encephalopathy1 test
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 11 test
  • Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
  • Encephalopathy, acute, infection-induced, 4, susceptibility to2 tests
  • Encephalopathy, familial, with neuroserpin inclusion bodies1 test
  • Encephalopathy, progressive, with or without lipodystrophy2 tests
  • Endocrine-cerebroosteodysplasia1 test
  • Endometrial carcinoma2 tests
  • Endplate acetylcholinesterase deficiency1 test
  • Enterokinase deficiency1 test
  • Epicanthus1 test
  • Epidermal nevus2 tests
  • Epidermal nevus syndrome1 test
  • Epidermolysis bullosa1 test
  • Epidermolysis bullosa dystrophica, autosomal recessive, modifier of1 test
  • Epidermolysis bullosa junctionalis with pyloric atresia2 tests
  • Epidermolysis bullosa simplex1 test
  • Epidermolysis bullosa simplex Dowling-Meara type1 test
  • Epidermolysis bullosa simplex due to plakophilin deficiency1 test
  • Epidermolysis bullosa simplex with muscular dystrophy1 test
  • Epidermolysis bullosa simplex with pyloric atresia1 test
  • Epidermolysis bullosa simplex, autosomal recessive1 test
  • Epidermolysis bullosa simplex, autosomal recessive 21 test
  • Epidermolysis bullosa simplex, Koebner type1 test
  • Epidermolysis bullosa simplex, Ogna type1 test
  • Epidermolysis bullosa, nonspecific, autosomal recessive1 test
  • Epidermolytic palmoplantar keratoderma2 tests
  • Epilepsy2 tests
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence 41 test
  • Epilepsy, childhood absence 51 test
  • Epilepsy, childhood absence 61 test
  • Epilepsy, childhood absence, JRK related1 test
  • Epilepsy, familial temporal lobe, 51 test
  • Epilepsy, familial temporal lobe, 71 test
  • Epilepsy, focal, SCN3A related1 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation1 test
  • Epilepsy, hearing loss, and mental retardation syndrome1 test
  • Epilepsy, idiopathic generalized 101 test
  • Epilepsy, idiopathic generalized, susceptibility to, 111 test
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Epilepsy, juvenile absence, susceptibility to, 11 test
  • Epilepsy, nocturnal frontal lobe, type 11 test
  • Epilepsy, nocturnal frontal lobe, type 31 test
  • Epilepsy, nocturnal frontal lobe, type 41 test
  • Epilepsy, progressive myoclonic 31 test
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epilepsy, progressive myoclonic 51 test
  • Epilepsy, progressive myoclonic 61 test
  • Epilepsy, progressive myoclonic 71 test
  • Epilepsy, progressive myoclonic 81 test
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
  • Epileptic encephalopathy1 test
  • Epileptic encephalopathy Lennox-Gastaut type1 test
  • Epileptic encephalopathy, early infantile, 12 tests
  • Epileptic encephalopathy, early infantile, 191 test
  • Epileptic encephalopathy, early infantile, 231 test
  • Epileptic encephalopathy, early infantile, 241 test
  • Epileptic encephalopathy, early infantile, 251 test
  • Epileptic encephalopathy, early infantile, 261 test
  • Epileptic encephalopathy, early infantile, 272 tests
  • Epileptic encephalopathy, early infantile, 281 test
  • Epileptic encephalopathy, early infantile, 291 test
  • Epileptic encephalopathy, early infantile, 301 test
  • Epileptic encephalopathy, early infantile, 311 test
  • Epileptic encephalopathy, early infantile, 322 tests
  • Epileptic encephalopathy, early infantile, 331 test
  • Epileptic encephalopathy, early infantile, 361 test
  • Epileptic encephalopathy, early infantile, 451 test
  • Epileptic encephalopathy, early infantile, 461 test
  • Epileptic encephalopathy, early infantile, 471 test
  • Epiphyseal dysplasia, multiple, 31 test
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness1 test
  • Episodic ataxia type 12 tests
  • Episodic ataxia, type 51 test
  • Episodic ataxia, type 61 test
  • Episodic kinesigenic dyskinesia 11 test
  • Episodic pain syndrome, familial, 21 test
  • Episodic pain syndrome, familial, 31 test
  • Erysipelas1 test
  • Erythrocyte AMP deaminase deficiency1 test
  • Erythrocyte lactate transporter defect1 test
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige1 test
  • Erythroderma, ichthyosiform, congenital reticular1 test
  • Erythrokeratodermia variabilis et progressiva 13 tests
  • Erythrokeratodermia variabilis et progressiva 21 test
  • Esotropia1 test
  • Essential hypertension1 test
  • Essential pentosuria1 test
  • Estrogen resistance1 test
  • Ethylmalonic encephalopathy1 test
  • Exercise intolerance1 test
  • Exercise-induced hyperinsulinism1 test
  • Exfoliation syndrome, susceptibility to1 test
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
  • External ear malformation1 test
  • Exudative vitreoretinopathy 51 test
  • Fabry disease3 tests
  • Facial dysmorphism, immunodeficiency, livedo, and short stature1 test
  • Factor V deficiency1 test
  • Factor VII deficiency1 test
  • Factor X deficiency1 test
  • Factor XII deficiency disease1 test
  • Factor XIII, A subunit, deficiency of1 test
  • Factor XIII, b subunit, deficiency of1 test
  • Failure to thrive1 test
  • Familial adenomatous polyposis 11 test
  • Familial adenomatous polyposis 31 test
  • Familial adenomatous polyposis 41 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial atrial myxoma1 test
  • Familial atypical mycobacteriosis, type 1, X-linked1 test
  • Familial cancer of breast2 tests
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial dysautonomia1 test
  • Familial expansile osteolysis1 test
  • Familial exudative vitreoretinopathy1 test
  • Familial exudative vitreoretinopathy, X-linked1 test
  • Familial focal epilepsy with variable foci1 test
  • Familial hemiplegic migraine1 test
  • Familial hemiplegic migraine type 11 test
  • Familial hemiplegic migraine type 21 test
  • Familial hemiplegic migraine type 31 test
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Familial hemophagocytic lymphohistiocytosis 21 test
  • Familial hemophagocytic lymphohistiocytosis 31 test
  • Familial hemophagocytic lymphohistiocytosis 41 test
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia1 test
  • Familial hypercholesterolemia 14 tests
  • Familial hypercholesterolemia 21 test
  • Familial hypercholesterolemia 31 test
  • Familial hypercholesterolemia 41 test
  • Familial hyperkalemic periodic paralysis1 test
  • Familial hypertrophic cardiomyopathy 11 test
  • Familial hypertrophic cardiomyopathy 101 test
  • Familial hypertrophic cardiomyopathy 111 test
  • Familial hypertrophic cardiomyopathy 121 test
  • Familial hypertrophic cardiomyopathy 161 test
  • Familial hypertrophic cardiomyopathy 171 test
  • Familial hypertrophic cardiomyopathy 181 test
  • Familial hypertrophic cardiomyopathy 191 test
  • Familial hypertrophic cardiomyopathy 21 test
  • Familial hypertrophic cardiomyopathy 31 test
  • Familial hypertrophic cardiomyopathy 41 test
  • Familial hypertrophic cardiomyopathy 61 test
  • Familial hypertrophic cardiomyopathy 71 test
  • Familial hypertrophic cardiomyopathy 81 test
  • Familial hypertrophic cardiomyopathy 92 tests
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial isolated deficiency of vitamin E1 test
  • Familial isolated hypoparathyroidism1 test
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial Mediterranean fever1 test
  • Familial medullary thyroid carcinoma1 test
  • Familial multiple trichoepitheliomata1 test
  • Familial myoclonus1 test
  • Familial partial lipodystrophy 22 tests
  • Familial partial lipodystrophy 31 test
  • Familial platelet disorder with associated myeloid malignancy1 test
  • Familial porencephaly4 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial renal glucosuria1 test
  • Familial restrictive cardiomyopathy 11 test
  • Familial temporal lobe epilepsy 11 test
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type1 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
  • Fanconi anemia1 test
  • Fanconi anemia, complementation group A2 tests
  • Fanconi anemia, complementation group B1 test
  • Fanconi anemia, complementation group C1 test
  • Fanconi anemia, complementation group D11 test
  • Fanconi anemia, complementation group D21 test
  • Fanconi anemia, complementation group E1 test
  • Fanconi anemia, complementation group F1 test
  • Fanconi anemia, complementation group G1 test
  • Fanconi anemia, complementation group I1 test
  • Fanconi anemia, complementation group J1 test
  • Fanconi anemia, complementation group L1 test
  • Fanconi anemia, complementation group M1 test
  • Fanconi anemia, complementation group N1 test
  • Fanconi anemia, complementation group P1 test
  • Fanconi anemia, complementation group Q1 test
  • Fanconi renotubular syndrome 21 test
  • Fanconi-Bickel syndrome2 tests
  • Farber disease2 tests
  • Fasciculations1 test
  • Febrile seizures, familial, 41 test
  • Feeding difficulties1 test
  • Feingold syndrome1 test
  • Feingold syndrome 21 test
  • Fetal akinesia deformation sequence2 tests
  • Fetal hemoglobin quantitative trait locus 11 test
  • FG syndrome 14 tests
  • FG syndrome 23 tests
  • FG syndrome 41 test
  • Fibrochondrogenesis 13 tests
  • Fibrochondrogenesis 22 tests
  • Fibrosis of extraocular muscles, congenital, 11 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement2 tests
  • Finger syndactyly1 test
  • Finnish congenital nephrotic syndrome2 tests
  • Fish-eye disease1 test
  • Flat face1 test
  • Fleck retina, familial benign1 test
  • Flexion contracture1 test
  • Floating-Harbor syndrome1 test
  • Focal cortical dysplasia type II1 test
  • Focal dermal hypoplasia1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 12 tests
  • Focal segmental glomerulosclerosis 23 tests
  • Focal segmental glomerulosclerosis 31 test
  • Focal segmental glomerulosclerosis 3, susceptibility to1 test
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 53 tests
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 71 test
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 91 test
  • Foot dorsiflexor weakness1 test
  • Foveal hypoplasia and presenile cataract syndrome2 tests
  • Fragile X syndrome1 test
  • Fragile X tremor/ataxia syndrome1 test
  • Frank-Ter Haar syndrome1 test
  • Frasier syndrome1 test
  • FRAXE1 test
  • Freeman-Sheldon syndrome1 test
  • Frontometaphyseal dysplasia1 test
  • Frontometaphyseal dysplasia 11 test
  • Frontonasal dysplasia 11 test
  • Frontonasal dysplasia 21 test
  • Frontoparietal polymicrogyria1 test
  • Frontotemporal dementia5 tests
  • Fructose uptake deficiency, SLC2A5 related1 test
  • Fructose-biphosphatase deficiency1 test
  • Fructosuria, essential1 test
  • FSH releasing protein deficiency1 test
  • Fucosidosis3 tests
  • Fuhrmann syndrome1 test
  • Fumarase deficiency2 tests
  • Gait ataxia1 test
  • Gait disturbance2 tests
  • Galactosemia1 test
  • Galactosylceramide beta-galactosidase deficiency3 tests
  • Galloway-Mowat syndrome1 test
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Gastrointestinal stromal tumor, familial1 test
  • Gaucher disease type 3C2 tests
  • Gaucher disease type I2 tests
  • Gaucher disease type II2 tests
  • Gaucher disease type III2 tests
  • Gaucher disease, atypical, due to saposin C deficiency1 test
  • Gaucher disease, perinatal lethal2 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 11 test
  • Geleophysic dysplasia 11 test
  • Geleophysic dysplasia 21 test
  • Generalized arterial calcification of infancy 21 test
  • Generalized dystonia1 test
  • Generalized epilepsy with febrile seizures plus1 test
  • Generalized epilepsy with febrile seizures plus 31 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Generalized epilepsy with febrile seizures plus, type 71 test
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized hypotonia1 test
  • Generalized juvenile polyposis/juvenile polyposis coli2 tests
  • Genitopatellar syndrome1 test
  • Geroderma osteodysplastica1 test
  • Ghosal hematodiaphyseal dysplasia1 test
  • Ghosal hematodiaphyseal syndrome1 test
  • Giant axonal neuropathy 12 tests
  • Gilbert syndrome1 test
  • Gillespie syndrome3 tests
  • Gingival enlargement1 test
  • Gingival fibromatosis 11 test
  • Glaucoma2 tests
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 1, open angle, F2 tests
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 3, primary congenital, A1 test
  • Glaucoma 3, primary congenital, d1 test
  • Glaucoma, normal tension, susceptibility to1 test
  • Glioma susceptibility 21 test
  • Glioma susceptibility 31 test
  • Global developmental delay3 tests
  • Globozoospermia1 test
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria1 test
  • Glucocorticoid deficiency 22 tests
  • Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency1 test
  • Glucocorticoid deficiency with achalasia2 tests
  • Glucocorticoid resistance, generalized1 test
  • Glucose-6-phosphate transport defect1 test
  • GLUT1 deficiency syndrome 11 test
  • GLUT1 deficiency syndrome 22 tests
  • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY1 test
  • Glutaric aciduria, type 11 test
  • Glutaryl-CoA oxidase deficiency1 test
  • Gluthathione synthetase deficiency1 test
  • Glycine encephalopathy with normal serum glycine1 test
  • Glycine N-methyltransferase deficiency1 test
  • Glycogen storage disease1 test
  • Glycogen storage disease 0, muscle2 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency1 test
  • Glycogen storage disease due to muscle beta-enolase deficiency1 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease IXd2 tests
  • Glycogen storage disease of heart, lethal congenital1 test
  • Glycogen storage disease type III2 tests
  • Glycogen storage disease type IXa11 test
  • Glycogen storage disease type X2 tests
  • Glycogen storage disease XI1 test
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type II7 tests
  • Glycogen storage disease, type IV2 tests
  • Glycogen storage disease, type V2 tests
  • Glycogen storage disease, type VI1 test
  • Glycogen storage disease, type VII2 tests
  • GM1 gangliosidosis1 test
  • GM1 gangliosidosis type 22 tests
  • GM1 gangliosidosis type 31 test
  • GM3 synthase deficiency1 test
  • Gnathodiaphyseal dysplasia1 test
  • GNE myopathy1 test
  • Goldberg-Shprintzen megacolon syndrome1 test
  • Gordon Holmes syndrome1 test
  • Gordon syndrome1 test
  • Gorlin syndrome3 tests
  • Gowers sign1 test
  • GRACILE syndrome1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
  • Greenberg dysplasia2 tests
  • Greig cephalopolysyndactyly syndrome1 test
  • Griscelli syndrome type 11 test
  • Griscelli syndrome type 21 test
  • Griscelli syndrome type 31 test
  • Growth delay1 test
  • Growth delay due to insulin-like growth factor I resistance1 test
  • Growth delay due to insulin-like growth factor type 1 deficiency1 test
  • Growth hormone deficiency2 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive2 tests
  • Growth retardation, developmental delay, coarse facies, and early death1 test
  • GTP cyclohydrolase I deficiency1 test
  • Guillain-Barre syndrome, familial1 test
  • Guttmacher syndrome1 test
  • Haim-Munk syndrome2 tests
  • Hamamy syndrome1 test
  • Hammertoe1 test
  • Hartsfield syndrome2 tests
  • Hawkinsinuria1 test
  • Hay-Wells syndrome of ectodermal dysplasia1 test
  • Hb SS disease1 test
  • Hdl Deficiency, Type 21 test
  • Hearing impairment1 test
  • Heart-hand syndrome, Slovenian type2 tests
  • Hecht syndrome1 test
  • Heimler syndrome 12 tests
  • Helsmoortel-Van der Aa Syndrome3 tests
  • Hemangioma, capillary infantile2 tests
  • Hemiplegia/hemiparesis1 test
  • Hemochromatosis type 11 test
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 41 test
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
  • Hemolytic-uremic syndrome9 tests
  • Hemophagocytic lymphohistiocytosis, familial, 51 test
  • Hemorrhage, intracerebral, susceptibility to3 tests
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts1 test
  • Hennekam lymphangiectasia-lymphedema syndrome 12 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 21 test
  • Hepatic steatosis1 test
  • Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
  • Hepatocellular carcinoma1 test
  • Hepatomegaly1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 11 test
  • Hereditary angioneurotic edema1 test
  • Hereditary congenital facial paresis 31 test
  • Hereditary diffuse gastric cancer2 tests
  • Hereditary diffuse leukoencephalopathy with spheroids1 test
  • Hereditary disease15 tests
  • Hereditary essential tremor 11 test
  • Hereditary factor II deficiency disease1 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary hearing loss and deafness1 test
  • Hereditary hemorrhagic telangiectasia2 tests
  • Hereditary hemorrhagic telangiectasia type 11 test
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary insensitivity to pain with anhidrosis2 tests
  • Hereditary liability to pressure palsies2 tests
  • Hereditary lymphedema type I1 test
  • Hereditary mixed polyposis syndrome1 test
  • Hereditary mixed polyposis syndrome 21 test
  • Hereditary motor and sensory neuropathy with optic atrophy1 test
  • Hereditary motor and sensory neuropathy, Okinawa type1 test
  • Hereditary neutrophilia1 test
  • Hereditary nonpolyposis colorectal cancer type 41 test
  • Hereditary nonpolyposis colorectal cancer type 51 test
  • Hereditary nonpolyposis colorectal cancer type 61 test
  • Hereditary nonpolyposis colorectal cancer type 71 test
  • Hereditary nonpolyposis colorectal cancer type 81 test
  • Hereditary pancreatitis1 test
  • Hereditary retinoblastoma1 test
  • Hereditary sensory and autonomic neuropathy type 12 tests
  • Hereditary sensory and autonomic neuropathy type IC2 tests
  • Hereditary sensory and autonomic neuropathy type II1 test
  • Hereditary sensory and autonomic neuropathy type IIA2 tests
  • Hereditary sensory and autonomic neuropathy type IIB1 test
  • Hereditary sensory and autonomic neuropathy type IIC2 tests
  • Hereditary sensory neuropathy type 1D2 tests
  • Hereditary sensory neuropathy type IE2 tests
  • Hereditary sensory neuropathy type IF1 test
  • Hereditary spastic paraplegia 102 tests
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 151 test
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 21 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 3A2 tests
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 71 test
  • Hereditary spastic paraplegia 81 test
  • Hereditary xanthinuria type 11 test
  • Hermansky-Pudlak syndrome1 test
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 21 test
  • Hermansky-Pudlak syndrome 31 test
  • Hermansky-Pudlak syndrome 41 test
  • Hermansky-Pudlak syndrome 51 test
  • Hermansky-Pudlak syndrome 61 test
  • Hermansky-Pudlak syndrome 71 test
  • Hermansky-Pudlak syndrome 81 test
  • Herpes simplex encephalitis 11 test
  • Herpes simplex encephalitis 21 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 51 test
  • Heterotaxy, visceral, 6, autosomal1 test
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotopia1 test
  • Heterotopia, periventricular, autosomal recessive1 test
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • High forehead1 test
  • High palate1 test
  • Highly arched eyebrow1 test
  • Hirschsprung disease9 tests
  • Hirschsprung disease 31 test
  • Hirsutism1 test
  • Histiocytic medullary reticulosis2 tests
  • Histiocytosis-lymphadenopathy plus syndrome1 test
  • HNSHA due to aldolase A deficiency1 test
  • Holocarboxylase synthetase deficiency1 test
  • Holoprosencephaly 111 test
  • Holoprosencephaly 21 test
  • Holoprosencephaly 31 test
  • Holoprosencephaly 41 test
  • Holoprosencephaly 51 test
  • Holoprosencephaly 91 test
  • Holoprosencephaly sequence3 tests
  • Holt-Oram syndrome1 test
  • Homocystinuria1 test
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
  • Hoyeraal-Hreidarsson syndrome1 test
  • HSD10 disease1 test
  • Human HOXA1 syndromes1 test
  • Hurler syndrome3 tests
  • Hurthle cell carcinoma of thyroid1 test
  • Hutchinson-Gilford syndrome2 tests
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole1 test
  • Hydatidiform mole, recurrent, 22 tests
  • Hydrocephalus1 test
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies1 test
  • Hydrolethalus syndrome1 test
  • Hydrolethalus syndrome 21 test
  • Hydrops fetalis1 test
  • Hydrops, lactic acidosis, and sideroblastic anemia1 test
  • Hyper-IgE recurrent infection syndrome1 test
  • Hyper-IgM syndrome type 11 test
  • Hyper-IgM syndrome type 22 tests
  • Hyper-IgM syndrome type 32 tests
  • Hyper-IgM syndrome type 52 tests
  • Hyperalphalipoproteinemia1 test
  • Hyperalphalipoproteinemia 11 test
  • Hyperammonemia, type III1 test
  • Hypercalcemia, infantile, 11 test
  • Hyperchlorhidrosis, isolated1 test
  • Hypercholanemia2 tests
  • Hypercholesterolemia, susceptibility to2 tests
  • Hyperekplexia4 tests
  • Hyperekplexia 11 test
  • Hyperhidrosis1 test
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
  • Hyperinsulinemic hypoglycemia1 test
  • Hyperinsulinemic hypoglycemia, familial, 11 test
  • Hyperinsulinemic hypoglycemia, familial, 21 test
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperinsulinism, UCP2 related1 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperkalemic Periodic Paralysis1 test
  • Hyperlipidemia, familial combined, susceptibility to1 test
  • Hyperlipoproteinemia, type I1 test
  • Hyperlysinemia1 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperparathyroidism 11 test
  • Hyperparathyroidism 22 tests
  • Hyperphenylalaninemia, BH4-deficient, D1 test
  • Hyperphosphatasemia tarda1 test
  • Hyperphosphatasemia with bone disease2 tests
  • Hyperphosphatasia with mental retardation syndrome 11 test
  • Hyperphosphatasia with mental retardation syndrome 21 test
  • Hyperphosphatasia with mental retardation syndrome 31 test
  • Hyperphosphatasia with mental retardation syndrome 41 test
  • Hyperphosphatasia with mental retardation syndrome 51 test
  • Hyperphosphatemic familial tumoral calcinosis 11 test
  • Hypertelorism1 test
  • Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy1 test
  • Hypertension, salt-sensitive essential, susceptibility to1 test
  • Hypertonia1 test
  • Hypertrichosis1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertriglyceridemia, susceptibility to1 test
  • Hypertriglyceridemia, transient infantile1 test
  • Hypertrophic cardiomyopathy1 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 12 tests
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis1 test
  • Hypobetalipoproteinemia, familial, 11 test
  • Hypocalcemia2 tests
  • Hypocalcemia, autosomal dominant 21 test
  • Hypocalcemia, autosomal dominant, with bartter syndrome1 test
  • Hypocalciuric hypercalcemia, familial, type 11 test
  • Hypocalciuric hypercalcemia, familial, type III1 test
  • Hypochondroplasia4 tests
  • Hypoglycemia1 test
  • Hypoglycemia, neonatal, simulating foetopathia diabetica1 test
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)2 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 15 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 16 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 17 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 19 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 23 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypokalemic periodic paralysis 12 tests
  • Hypomagnesemia1 test
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 4, renal1 test
  • Hypomagnesemia 5, renal, with ocular involvement1 test
  • Hypomagnesemia 6, renal1 test
  • Hypomyelinating leukodystrophy1 test
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 71 test
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
  • Hypomyelination and Congenital Cataract1 test
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity1 test
  • Hypoparathyroidism1 test
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypophosphatasia1 test
  • Hypophosphatemic rickets1 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypoplasia of penis2 tests
  • Hypoplasia of the brainstem1 test
  • Hypoplasia of the corpus callosum1 test
  • Hypoplasia of the maxilla1 test
  • Hypoplasia of the pons1 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hyporeflexia2 tests
  • Hypospadias1 test
  • Hypospadias 2, X-linked1 test
  • Hypothyroidism1 test
  • Hypothyroidism, congenital, nongoitrous, 11 test
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypothyroidism, congenital, nongoitrous, 61 test
  • Hypothyroidism, isolated, TRHR related1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Hypotonia-cystinuria syndrome1 test
  • Hypotrichosis 12 tests
  • Hypotrichosis 112 tests
  • Hypotrichosis 122 tests
  • Hypotrichosis 132 tests
  • Hypotrichosis 141 test
  • Hypotrichosis 22 tests
  • Hypotrichosis 32 tests
  • Hypotrichosis 42 tests
  • Hypotrichosis 62 tests
  • Hypotrichosis 72 tests
  • Hypotrichosis 82 tests
  • Hypotrichosis and recurrent skin vesicles1 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hypsarrhythmia1 test
  • Ichthyosis bullosa of Siemens2 tests
  • Ichthyosis hystrix of Curth-Macklin1 test
  • Ichthyosis prematurity syndrome2 tests
  • Ichthyosis vulgaris2 tests
  • Ichthyosis, congenital, autosomal recessive 112 tests
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis1 test
  • Ichthyosis, spastic quadriplegia, and mental retardation1 test
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic basal ganglia calcification 51 test
  • Idiopathic nephrotic syndrome2 tests
  • Idiopathic Pulmonary Fibrosis2 tests
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Ige responsiveness, atopic1 test
  • IL21R immunodeficiency1 test
  • Imerslund-Gräsbeck syndrome1 test
  • Imerslund-Gräsbeck syndrome 11 test
  • Immunodeficiency 111 test
  • Immunodeficiency 121 test
  • Immunodeficiency 142 tests
  • Immunodeficiency 151 test
  • Immunodeficiency 171 test
  • Immunodeficiency 182 tests
  • Immunodeficiency 192 tests
  • Immunodeficiency 221 test
  • Immunodeficiency 241 test
  • Immunodeficiency 26 with or without neurologic abnormalities1 test
  • Immunodeficiency 27A6 tests
  • Immunodeficiency 32a1 test
  • Immunodeficiency 32b1 test
  • Immunodeficiency 352 tests
  • Immunodeficiency 361 test
  • Immunodeficiency 381 test
  • Immunodeficiency 421 test
  • Immunodeficiency 671 test
  • Immunodeficiency 81 test
  • Immunodeficiency due to defect in cd3-zeta2 tests
  • Immunodeficiency due to defect in mapbp-interacting protein1 test
  • Immunodeficiency without anhidrotic ectodermal dysplasia1 test
  • Immunodeficiency, X-linked, with hyper-IgM1 test
  • Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 12 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunoglobulin A deficiency 21 test
  • Inborn aminoacylase deficiency1 test
  • Inclusion body myopathy2 tests
  • Incontinentia pigmenti syndrome1 test
  • Indifference to pain, congenital, autosomal recessive1 test
  • Infantile cerebellar-retinal degeneration1 test
  • Infantile convulsions and choreoathetosis1 test
  • Infantile cortical hyperostosis1 test
  • Infantile GM1 gangliosidosis2 tests
  • Infantile hypophosphatasia2 tests
  • Infantile liver failure syndrome 21 test
  • Infantile nephronophthisis1 test
  • Infantile neuroaxonal dystrophy 11 test
  • Infantile nystagmus, X-linked1 test
  • Infantile onset spinocerebellar ataxia2 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Inflammatory bowel disease 131 test
  • Inflammatory skin and bowel disease, neonatal 11 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual disability2 tests
  • Intellectual disability, autosomal dominant 92 tests
  • Intellectual disability, mild2 tests
  • Intellectual disability, moderate1 test
  • Intellectual disability, severe1 test
  • Intellectual disability, TBR1 related1 test
  • Intellectual disability, X-linked 141 test
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked syndromic, Turner type1 test
  • Intellectual disability, X-linked, syndromic, Houge type1 test
  • Interleukin 2 receptor, alpha, deficiency of1 test
  • Interstitial lung and liver disease1 test
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1 test
  • Interstitial nephritis, karyomegalic1 test
  • Interstitial pulmonary abnormality1 test
  • Intestinal lymphangiectasis1 test
  • Intestinal pseudo-obstruction1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
  • Intrahepatic Cholestasis1 test
  • Intrahepatic cholestasis of pregnancy, NR1H4 related1 test
  • Intrauterine growth restriction1 test
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies1 test
  • Intrinsic factor deficiency1 test
  • Invasive pneumococcal disease, recurrent isolated, 11 test
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect1 test
  • Irido-corneo-trabecular dysgenesis4 tests
  • Iris coloboma1 test
  • Irregular dentition1 test
  • isolated follicle-stimulating hormone deficiency2 tests
  • Isolated sulfite oxidase deficiency1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Jackson-Weiss syndrome3 tests
  • Jalili syndrome1 test
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Johanson-Blizzard syndrome1 test
  • Joint laxity1 test
  • Joubert syndrome2 tests
  • Joubert syndrome 11 test
  • Joubert syndrome 102 tests
  • Joubert syndrome 131 test
  • Joubert syndrome 141 test
  • Joubert syndrome 151 test
  • Joubert syndrome 161 test
  • Joubert syndrome 171 test
  • Joubert syndrome 181 test
  • Joubert syndrome 21 test
  • Joubert syndrome 201 test
  • Joubert syndrome 211 test
  • Joubert syndrome 221 test
  • Joubert syndrome 231 test
  • Joubert syndrome 241 test
  • Joubert syndrome 31 test
  • Joubert syndrome 41 test
  • Joubert syndrome 51 test
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 81 test
  • Joubert syndrome 91 test
  • Joubert syndrome with hepatic defect3 tests
  • Joubert syndrome, EXOSC8 related1 test
  • Junctional epidermolysis bullosa2 tests
  • Junctional epidermolysis bullosa gravis of Herlitz2 tests
  • Junctional epidermolysis bullosa, non-Herlitz type2 tests
  • Juvenile myelomonocytic leukemia2 tests
  • Juvenile primary lateral sclerosis1 test
  • Kabuki syndrome 11 test
  • Kabuki syndrome 22 tests
  • Kahrizi syndrome1 test
  • Kallmann syndrome 32 tests
  • Kartagener syndrome1 test
  • Kaufman oculocerebrofacial syndrome1 test
  • KBG syndrome2 tests
  • Kenny-Caffey syndrome type 21 test
  • Keratitis, hereditary1 test
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant2 tests
  • Keratoconus 11 test
  • Keratosis follicularis spinulosa decalvans, X-linked1 test
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2 tests
  • Keratosis palmoplantaris striata II1 test
  • Keutel syndrome1 test
  • Kindler syndrome1 test
  • King Denborough syndrome1 test
  • Kleefstra syndrome1 test
  • Klippel-Feil syndrome1 test
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 2, autosomal recessive1 test
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism1 test
  • Kniest dysplasia1 test
  • Knobloch syndrome 12 tests
  • KNOPS BLOOD GROUP SYSTEM1 test
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Koolen-de Vries syndrome1 test
  • Kostmann syndrome1 test
  • Krabbe disease, atypical, due to saposin A deficiency2 tests
  • Kufor-Rakeb syndrome2 tests
  • Kugelberg-Welander disease2 tests
  • Kyphosis1 test
  • L-2-hydroxyglutaric aciduria1 test
  • Lactate dehydrogenase B deficiency1 test
  • Lafora disease2 tests
  • Langer-Giedion syndrome2 tests
  • Large eyes1 test
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome1 test
  • Laryngo-onycho-cutaneous syndrome1 test
  • Late-onset retinal degeneration1 test
  • LCAT deficiency1 test
  • Leber congenital amaurosis2 tests
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 101 test
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 131 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 171 test
  • Leber congenital amaurosis 31 test
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 61 test
  • Leber congenital amaurosis 71 test
  • Leber congenital amaurosis 81 test
  • Leber congenital amaurosis 91 test
  • Left ventricular noncompaction1 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 61 test
  • Left ventricular noncompaction 71 test
  • Left-right axis malformations1 test
  • Legionnaire disease, susceptibility to1 test
  • Legius syndrome4 tests
  • Leigh syndrome19 tests
  • Leigh syndrome due to mitochondrial complex I deficiency1 test
  • Lenz microphthalmia syndrome1 test
  • Lenz-Majewski hyperostosis syndrome2 tests
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 32 tests
  • Leptin deficiency or dysfunction1 test
  • Lesch-Nyhan syndrome1 test
  • Lethal acantholytic epidermolysis bullosa1 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital contracture syndrome 41 test
  • Lethal congenital contracture syndrome 51 test
  • Lethal Kniest-like syndrome3 tests
  • Lethal multiple pterygium syndrome2 tests
  • Lethal osteosclerotic bone dysplasia2 tests
  • Lethal tight skin contracture syndrome3 tests
  • Leucine-induced hypoglycemia1 test
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukocyte adhesion deficiency2 tests
  • Leukocyte adhesion deficiency 11 test
  • Leukocyte adhesion deficiency type II2 tests
  • Leukocyte adhesion deficiency, type III1 test
  • Leukodystrophy2 tests
  • Leukodystrophy, adult-onset, autosomal dominant1 test
  • Leukodystrophy, hypomyelinating, 41 test
  • Leukodystrophy, hypomyelinating, 61 test
  • Leukodystrophy, hypomyelinating, 91 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leukoencephalopathy with dystonia and motor neuropathy1 test
  • Leukoencephalopathy with vanishing white matter5 tests
  • Leukoencephalopathy, cystic, without megalencephaly1 test
  • Leukoencephalopathy, progressive, with ovarian failure1 test
  • Levy-Hollister syndrome4 tests
  • Lewy body dementia2 tests
  • Leydig cell hypoplasia, type 11 test
  • Li-Fraumeni syndrome 11 test
  • Li-Fraumeni syndrome 21 test
  • Liddle syndrome2 tests
  • Lig4 syndrome2 tests
  • Limb dystonia1 test
  • Limb-girdle muscular dystrophy2 tests
  • Limb-girdle muscular dystrophy, type 1E1 test
  • Limb-girdle muscular dystrophy, type 2A2 tests
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy, type 2L1 test
  • Limb-girdle muscular dystrophy, type 2Q1 test
  • Limb-girdle muscular dystrophy, type 2S1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C12 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C22 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C32 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C42 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C52 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C91 test
  • Limb-mammary syndrome1 test
  • Limitation of joint mobility1 test
  • Linear skin defects with multiple congenital anomalies 11 test
  • Lipid proteinosis1 test
  • Lipodystrophy1 test
  • Lipodystrophy, congenital generalized, type 41 test
  • Lipoprotein glomerulopathy1 test
  • Lissencephaly2 tests
  • Lissencephaly 2, X-linked3 tests
  • Lissencephaly 42 tests
  • Lissencephaly 51 test
  • Lissencephaly due to LIS1 mutation2 tests
  • Lissencephaly, X-linked3 tests
  • Localized epidermolysis bullosa simplex1 test
  • Loeys-Dietz syndrome2 tests
  • Loeys-Dietz syndrome 15 tests
  • Loeys-Dietz syndrome 25 tests
  • Loeys-Dietz syndrome 32 tests
  • Loeys-Dietz syndrome 42 tests
  • Long eyelashes1 test
  • Long palpebral fissure1 test
  • Long QT syndrome2 tests
  • Long QT syndrome 11 test
  • Long QT syndrome 101 test
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 151 test
  • Long QT syndrome 21 test
  • Long QT syndrome 31 test
  • Long QT syndrome 41 test
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 81 test
  • Long QT syndrome 91 test
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Low anterior hairline1 test
  • Low phospholipid associated cholelithiasis1 test
  • Low-set, posteriorly rotated ears1 test
  • Lowe syndrome2 tests
  • Lucey-Driscoll syndrome1 test
  • Lung carcinoma2 tests
  • Lymphadenopathy1 test
  • Lymphangioma1 test
  • Lymphangiomyomatosis1 test
  • Lymphatic malformation 31 test
  • Lymphatic malformation 81 test
  • Lymphedema1 test
  • Lymphedema, primary, with myelodysplasia1 test
  • Lymphopenia1 test
  • Lymphoproliferative syndrome 11 test
  • Lymphoproliferative syndrome 1, X-linked2 tests
  • Lymphoproliferative syndrome 21 test
  • Lymphoproliferative syndrome 2, X-linked2 tests
  • Lynch syndrome I2 tests
  • Lynch syndrome II1 test
  • Lysinuric protein intolerance1 test
  • Macrocephalus1 test
  • Macrocephaly, alopecia, cutis laxa, and scoliosis2 tests
  • Macrocephaly/autism syndrome1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macrotia1 test
  • Macular degeneration, early-onset1 test
  • Macular dystrophy with central cone involvement1 test
  • Macular dystrophy, patterned, 11 test
  • Majeed syndrome1 test
  • Major affective disorder 71 test
  • Malabsorption1 test
  • Malar flattening1 test
  • Malaria, cerebral, susceptibility to1 test
  • Malaria, resistance to1 test
  • Malignant hyperthermia1 test
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant melanoma of skin2 tests
  • Malignant tumor of prostate5 tests
  • Malignant tumor of testis1 test
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome1 test
  • Mandibuloacral dysplasia1 test
  • Mandibuloacral dysplasia with type A lipodystrophy1 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Mandibulofacial dysostosis-microcephaly syndrome1 test
  • Mannose-binding protein deficiency1 test
  • Maple syrup urine disease1 test
  • Maple syrup urine disease type 1A1 test
  • Maple syrup urine disease type 1B1 test
  • Maple syrup urine disease type 21 test
  • Maple syrup urine disease, mild variant1 test
  • Maple syrup urine disease, type 31 test
  • Marden-Walker syndrome1 test
  • Marfan lipodystrophy syndrome1 test
  • Marfan syndrome4 tests
  • Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections1 test
  • Marinesco-Sjögren syndrome1 test
  • Marshall syndrome2 tests
  • MASA syndrome3 tests
  • MASS syndrome2 tests
  • Mast syndrome1 test
  • Maternal riboflavin deficiency1 test
  • Matthew-Wood syndrome1 test
  • Maturity onset diabetes mellitus in young3 tests
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 91 test
  • Maturity-onset diabetes of the young, type 11 test
  • Maturity-onset diabetes of the young, type 101 test
  • Maturity-onset diabetes of the young, type 111 test
  • Maturity-onset diabetes of the young, type 21 test
  • Maturity-onset diabetes of the young, type 31 test
  • McKusick-Kaufman syndrome3 tests
  • McLeod neuroacanthocytosis syndrome1 test
  • Meacham syndrome1 test
  • Meckel syndrome type 11 test
  • Meckel syndrome type 81 test
  • Meckel syndrome, type 101 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 41 test
  • Meckel syndrome, type 91 test
  • Meckel-Gruber syndrome1 test
  • Meconium ileus1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • Medulloblastoma2 tests
  • Megaconial type congenital muscular dystrophy1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a1 test
  • Megalencephaly, autosomal dominant1 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 22 tests
  • Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome1 test
  • Megaloblastic anemia1 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Megalocornea1 test
  • Megarbane-Jalkh syndrome1 test
  • Meier-Gorlin syndrome 11 test
  • Meier-Gorlin syndrome 21 test
  • Meier-Gorlin syndrome 41 test
  • Melanoma1 test
  • Melanoma and neural system tumor syndrome1 test
  • Melanoma, cutaneous malignant, susceptibility to, 101 test
  • Melanoma-pancreatic cancer syndrome2 tests
  • Melnick-Needles syndrome2 tests
  • MEND syndrome1 test
  • Meningioma, familial5 tests
  • Meningocele1 test
  • Menkes kinky-hair syndrome2 tests
  • Mental retardation 17, X-linked1 test
  • Mental retardation 3, X-linked1 test
  • Mental retardation 30, X-linked1 test
  • Mental retardation 46, X-linked1 test
  • Mental retardation 49, X-linked2 tests
  • Mental retardation 58, X-linked1 test
  • Mental retardation 63, X-linked1 test
  • Mental retardation 9, X-linked1 test
  • Mental retardation 91, X-linked1 test
  • Mental retardation 92, X-linked1 test
  • Mental retardation 95, X-linked1 test
  • Mental retardation and distinctive facial features with or without cardiac defects1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia2 tests
  • Mental retardation with language impairment and with or without autistic features2 tests
  • Mental retardation with panhypopituitarism, X-linked1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance2 tests
  • Mental retardation, anterior maxillary protrusion, and strabismus1 test
  • Mental retardation, autosomal dominant 11 test
  • Mental retardation, autosomal dominant 111 test
  • Mental retardation, autosomal dominant 134 tests
  • Mental retardation, autosomal dominant 141 test
  • Mental retardation, autosomal dominant 151 test
  • Mental retardation, autosomal dominant 161 test
  • Mental retardation, autosomal dominant 181 test
  • Mental retardation, autosomal dominant 191 test
  • Mental retardation, autosomal dominant 21 test
  • Mental retardation, autosomal dominant 231 test
  • Mental retardation, autosomal dominant 241 test
  • Mental retardation, autosomal dominant 271 test
  • Mental retardation, autosomal dominant 31 test
  • Mental retardation, autosomal dominant 311 test
  • Mental retardation, autosomal dominant 381 test
  • Mental retardation, autosomal dominant 52 tests
  • Mental retardation, autosomal dominant 62 tests
  • Mental retardation, autosomal dominant 72 tests
  • Mental retardation, autosomal recessive 11 test
  • Mental retardation, autosomal recessive 121 test
  • Mental retardation, autosomal recessive 141 test
  • Mental retardation, autosomal recessive 151 test
  • Mental retardation, autosomal recessive 181 test
  • Mental retardation, autosomal recessive 21 test
  • Mental retardation, autosomal recessive 31 test
  • Mental retardation, autosomal recessive 361 test
  • Mental retardation, autosomal recessive 371 test
  • Mental retardation, autosomal recessive 381 test
  • Mental retardation, autosomal recessive 391 test
  • Mental retardation, autosomal recessive 401 test
  • Mental retardation, autosomal recessive 411 test
  • Mental retardation, autosomal recessive 421 test
  • Mental retardation, autosomal recessive 461 test
  • Mental retardation, autosomal recessive 491 test
  • Mental retardation, autosomal recessive 51 test
  • Mental retardation, autosomal recessive 551 test
  • Mental retardation, autosomal recessive 71 test
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma2 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations3 tests
  • Mental retardation, syndromic 14, X-linked1 test
  • Mental retardation, syndromic, Claes-Jensen type, X-linked1 test
  • Mental retardation, with or without seizures, ARX-related, X-linked3 tests
  • Mental retardation, X-linked 11 test
  • Mental retardation, X-linked 1011 test
  • Mental retardation, X-linked 1021 test
  • Mental retardation, X-linked 1041 test
  • Mental retardation, X-linked 191 test
  • Mental retardation, X-linked 451 test
  • Mental retardation, X-linked 722 tests
  • Mental retardation, X-linked 931 test
  • Mental retardation, X-linked 961 test
  • Mental retardation, X-linked 991 test
  • Mental retardation, X-linked, syndromic 132 tests
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Mental retardation, X-linked, syndromic, Raymond type1 test
  • Mental retardation, X-linked, syndromic, wu type2 tests
  • Mental retardation, X-linked, with isolated growth hormone deficiency1 test
  • Meretoja syndrome1 test
  • Merosin deficient congenital muscular dystrophy2 tests
  • Mesoaxial synostotic syndactyly with phalangeal reduction1 test
  • Mesothelioma, malignant1 test
  • Metabolic myopathy1 test
  • Metachondromatosis1 test
  • Metachromatic leukodystrophy2 tests
  • Metaphyseal anadysplasia 1, autosomal dominant1 test
  • Metaphyseal anadysplasia 22 tests
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, McKusick type3 tests
  • Metaphyseal chondrodysplasia, Schmid type2 tests
  • Metaphyseal dysplasia without hypotrichosis3 tests
  • Metatrophic dysplasia2 tests
  • Methemoglobinemia, type I1 test
  • Methionine adenosyltransferase deficiency, autosomal recessive1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonate semialdehyde dehydrogenase deficiency1 test
  • Methylmalonic acidemia1 test
  • Methylmalonic acidemia with homocystinuria cblD1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ1 test
  • Methylmalonic aciduria and homocystinuria type cblF1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Methylmalonic aciduria due to transcobalamin receptor defect1 test
  • Methylmalonyl-CoA epimerase deficiency1 test
  • Mevalonic aciduria1 test
  • Microcephalic osteodysplastic primordial dwarfism type II1 test
  • Microcephaly1 test
  • Microcephaly and chorioretinopathy with or without mental retardation1 test
  • Microcephaly with mental retardation and digital anomalies1 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1 test
  • Microcephaly, congenital cataract, and psoriasiform dermatitis1 test
  • Microcephaly, epilepsy, and diabetes syndrome2 tests
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1 test
  • Microcephaly, short stature, and polymicrogyria with or without seizures1 test
  • MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES1 test
  • Microcephaly-capillary malformation syndrome1 test
  • Microcornea1 test
  • Microcytic anemia1 test
  • Micrognathia1 test
  • Micropenis1 test
  • Microphthalmia2 tests
  • Microphthalmia with brain and digit anomalies2 tests
  • Microphthalmia, isolated 21 test
  • Microphthalmia, isolated 31 test
  • Microphthalmia, isolated 41 test
  • Microphthalmia, isolated 51 test
  • Microphthalmia, isolated 61 test
  • Microphthalmia, isolated 71 test
  • Microphthalmia, isolated, with coloboma1 test
  • Microphthalmia, isolated, with coloboma 31 test
  • Microphthalmia, isolated, with coloboma 62 tests
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 111 test
  • Microspherophakia1 test
  • Microtia1 test
  • Microvascular complications of diabetes 11 test
  • Microvascular complications of diabetes 61 test
  • Mild short stature1 test
  • Miller Dieker syndrome1 test
  • Miller syndrome1 test
  • Minicore myopathy with external ophthalmoplegia1 test
  • Mirage syndrome1 test
  • Mirror movements 11 test
  • Mirror movements 21 test
  • Mirror movements 31 test
  • Mitchell-Riley syndrome1 test
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
  • Mitochondrial complex I deficiency14 tests
  • Mitochondrial complex II deficiency, nuclear type 13 tests
  • Mitochondrial complex III deficiency4 tests
  • Mitochondrial complex III deficiency, nuclear type 21 test
  • Mitochondrial complex III deficiency, nuclear type 71 test
  • Mitochondrial complex IV deficiency7 tests
  • Mitochondrial complex v (atp synthase) deficiency, nuclear type 41 test
  • Mitochondrial DNA depletion syndrome5 tests
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)3 tests
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 21 test
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type2 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy3 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
  • Mitochondrial encephalomyopathy1 test
  • Mitochondrial encephalopathy2 tests
  • Mitochondrial phosphate carrier deficiency1 test
  • Mitochondrial pyruvate carrier deficiency1 test
  • Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1 test
  • Mitochondrial trifunctional protein deficiency3 tests
  • Miyoshi muscular dystrophy 31 test
  • Miyoshi myopathy1 test
  • MMEP syndrome1 test
  • Molybdenum Cofactor Deficiency A1 test
  • Molybdenum cofactor deficiency B1 test
  • Molybdenum cofactor deficiency C1 test
  • Monocarboxylate transporter 1 deficiency1 test
  • Monogenic diabetes1 test
  • Mononeuropathy of the median nerve, mild1 test
  • Morbid obesity1 test
  • MORM syndrome1 test
  • Mosaic variegated aneuploidy syndrome 21 test
  • Motor delay1 test
  • Mowat-Wilson syndrome1 test
  • Moyamoya disease 21 test
  • Moyamoya disease 51 test
  • Moyamoya disease 6 with achalasia1 test
  • MPDU1-CDG1 test
  • MPI-CDG1 test
  • Mucolipidosis type II2 tests
  • Mucolipidosis type III gamma2 tests
  • Mucolipidosis type IV2 tests
  • Mucopolysaccharidosis1 test
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 72 tests
  • Mucopolysaccharidosis, MPS-I-H/S2 tests
  • Mucopolysaccharidosis, MPS-I-S2 tests
  • Mucopolysaccharidosis, MPS-II2 tests
  • Mucopolysaccharidosis, MPS-III-A2 tests
  • Mucopolysaccharidosis, MPS-III-B2 tests
  • Mucopolysaccharidosis, MPS-III-C2 tests
  • Mucopolysaccharidosis, MPS-III-D2 tests
  • Mucopolysaccharidosis, MPS-IV-A2 tests
  • Mucopolysaccharidosis, MPS-IV-B2 tests
  • Muenke syndrome2 tests
  • Muir-Torré syndrome2 tests
  • Mulibrey nanism syndrome1 test
  • Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
  • Multicentric osteolysis, nodulosis and arthropathy1 test
  • Multiple acyl-CoA dehydrogenase deficiency4 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
  • Multiple congenital exostosis2 tests
  • Multiple endocrine neoplasia, type 12 tests
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b1 test
  • Multiple endocrine neoplasia, type 41 test
  • Multiple epiphyseal dysplasia1 test
  • Multiple epiphyseal dysplasia 11 test
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple fibrofolliculomas1 test
  • Multiple gastrointestinal atresias1 test
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects2 tests
  • Multiple mitochondrial dysfunctions syndrome 11 test
  • Multiple mitochondrial dysfunctions syndrome 21 test
  • Multiple mitochondrial dysfunctions syndrome 31 test
  • Multiple mitochondrial dysfunctions syndrome 41 test
  • Multiple sulfatase deficiency3 tests
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • Muscle AMP deaminase deficiency3 tests
  • Muscle cramps1 test
  • Muscle eye brain disease2 tests
  • Muscle stiffness1 test
  • Muscle weakness2 tests
  • Muscular dystrophy2 tests
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 131 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 82 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 121 test
  • Muscular hypotonia2 tests
  • Muscular hypotonia of the trunk1 test
  • Mutilating keratoderma1 test
  • Myasthenia, limb-girdle, familial1 test
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 20, presynaptic1 test
  • Myasthenic syndrome, congenital, 3a, slow-channel1 test
  • Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, slow-channel congenital1 test
  • Myd88 deficiency1 test
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • MYH-associated polyposis1 test
  • MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
  • Myhre syndrome2 tests
  • Myoclonic dystonia 114 tests
  • myoclonic epilepsy1 test
  • Myoclonic epilepsy, familial infantile1 test
  • Myofibrillar myopathy1 test
  • Myofibrillar myopathy 11 test
  • Myofibrillar myopathy 32 tests
  • Myofibrillar myopathy, BAG3-related1 test
  • Myofibrillar myopathy, filamin C-related1 test
  • Myofibrillar myopathy, ZASP-related1 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myokymia1 test
  • Myopathic facies1 test
  • Myopathy1 test
  • Myopathy with extrapyramidal signs1 test
  • Myopathy with lactic acidosis, hereditary1 test
  • Myopathy with postural muscle atrophy, X-linked1 test
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1 test
  • Myopathy, centronuclear, 13 tests
  • Myopathy, centronuclear, 21 test
  • Myopathy, centronuclear, 31 test
  • Myopathy, centronuclear, 42 tests
  • Myopathy, centronuclear, 51 test
  • Myopathy, congenital, compton-north1 test
  • Myopathy, distal, 11 test
  • Myopathy, distal, 41 test
  • Myopathy, distal, with anterior tibial onset1 test
  • Myopathy, early-onset, with fatal cardiomyopathy1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 14 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1 test
  • Myopathy, myofibrillar, 9, with early respiratory failure1 test
  • Myopathy, scapulohumeroperoneal1 test
  • Myopathy, tubular aggregate, 11 test
  • Myopathy, tubular aggregate, 21 test
  • Myopia1 test
  • Myosclerosis, autosomal recessive1 test
  • Myosin storage myopathy1 test
  • Myostatin-related muscle hypertrophy1 test
  • Myotonia1 test
  • Myotonia congenita1 test
  • N-terminal acetyltransferase deficiency1 test
  • Naegeli-Franceschetti-Jadassohn syndrome1 test
  • Nager syndrome1 test
  • Nail-patella syndrome1 test
  • Namaqualand hip dysplasia1 test
  • Nance-Horan syndrome1 test
  • Nanophthalmos 21 test
  • Narcolepsy1 test
  • Narrow chest1 test
  • Narrow face1 test
  • Narrow forehead1 test
  • Narrow mouth1 test
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect1 test
  • Navajo neurohepatopathy2 tests
  • NDE1-related microhydranencephaly1 test
  • Nemaline myopathy2 tests
  • Nemaline myopathy 11 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 31 test
  • Nemaline myopathy 41 test
  • Nemaline myopathy 51 test
  • Nemaline myopathy 61 test
  • Nemaline myopathy 71 test
  • Neonatal alloimmune thrombocytopenia2 tests
  • Neonatal diabetes mellitus2 tests
  • Neonatal hypotonia1 test
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal severe hyperparathyroidism1 test
  • Neoplasm of ovary1 test
  • Neoplasm of stomach1 test
  • Nephroblastoma1 test
  • Nephrogenic diabetes insipidus, autosomal1 test
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 11 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
  • Nephronophthisis2 tests
  • Nephronophthisis 11 test
  • Nephronophthisis 121 test
  • Nephronophthisis 131 test
  • Nephronophthisis 141 test
  • Nephronophthisis 151 test
  • Nephronophthisis 161 test
  • Nephronophthisis 191 test
  • Nephronophthisis 31 test
  • Nephronophthisis 41 test
  • Nephronophthisis 71 test
  • Nephronophthisis 91 test
  • Nephronophthisis-like nephropathy 11 test
  • Nephropathic cystinosis2 tests
  • Nephrotic syndrome2 tests
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 41 test
  • Nephrotic syndrome, type 5, with or without ocular abnormalities1 test
  • Nephrotic syndrome, type 71 test
  • Nephrotic syndrome, type 81 test
  • Netherton syndrome1 test
  • Neural tube defect1 test
  • Neuroblastoma1 test
  • Neuroblastoma 31 test
  • Neurodegeneration with brain iron accumulation1 test
  • Neurodegeneration with brain iron accumulation 41 test
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1 test
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1 test
  • Neurodevelopmental disorder, MTOR related1 test
  • Neuroferritinopathy1 test
  • Neurofibromatosis1 test
  • Neurofibromatosis, type 12 tests
  • Neurofibromatosis, type 22 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Neurohypophyseal diabetes insipidus1 test
  • Neurological speech impairment1 test
  • Neuromuscular disease1 test
  • Neuronal ceroid lipofuscinosis 12 tests
  • Neuronal ceroid lipofuscinosis 102 tests
  • Neuronal ceroid lipofuscinosis 32 tests
  • Neuronal ceroid lipofuscinosis 4B2 tests
  • Neuronal ceroid lipofuscinosis 52 tests
  • Neuronal ceroid lipofuscinosis 62 tests
  • Neuronal ceroid lipofuscinosis 72 tests
  • Neuronal ceroid lipofuscinosis 82 tests
  • Neuropathy, hereditary sensory and autonomic, type VI1 test
  • Neuropathy, hereditary sensory and autonomic, type VIII1 test
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive1 test
  • Neutral 1 amino acid transport defect1 test
  • Neutral lipid storage myopathy1 test
  • Neutropenia, nonimmune chronic idiopathic, of adults1 test
  • Neutropenia, severe congenital 1, autosomal dominant1 test
  • Neutrophil immunodeficiency syndrome2 tests
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease type C13 tests
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C22 tests
  • Nijmegen breakage syndrome-like disorder1 test
  • Nocturnal frontal lobe epilepsy1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
  • Non-ketotic hyperglycinemia4 tests
  • Non-midline cleft lip1 test
  • Non-syndromic intellectual disability4 tests
  • Non-syndromic syndactyly1 test
  • Non-syndromic X-linked intellectual disability1 test
  • Nonarteritic anterior ischemic optic neuropathy1 test
  • Nonpersistence of intestinal lactase1 test
  • Nonsyndromic microcephaly2 tests
  • Nonsyndromic Oculocutaneous Albinism1 test
  • Noonan syndrome 12 tests
  • Noonan syndrome 101 test
  • Noonan syndrome 32 tests
  • Noonan syndrome 42 tests
  • Noonan syndrome 52 tests
  • Noonan syndrome 62 tests
  • Noonan syndrome 72 tests
  • Noonan syndrome 81 test
  • Noonan syndrome-like disorder with loose anagen hair 12 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
  • Norman-Roberts syndrome1 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 21 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 31 test
  • Nystagmus1 test
  • Nystagmus 6, congenital, X-linked1 test
  • Obesity3 tests
  • Obesity, early-onset, susceptibility to1 test
  • Occult macular dystrophy1 test
  • Ochoa syndrome1 test
  • Ocular albinism, type I1 test
  • Ocular albinism, type II1 test
  • Ocular cystinosis1 test
  • Oculocutaneous albinism type 1B1 test
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 41 test
  • Oculodentodigital dysplasia2 tests
  • Oculofaciocardiodental syndrome1 test
  • Oculomotor apraxia1 test
  • Oculootoradial syndrome1 test
  • Odonto-onycho-dermal dysplasia2 tests
  • Odontohypophosphatasia1 test
  • Oguchi disease2 tests
  • Ohdo syndrome, X-linked2 tests
  • Oligohydramnios1 test
  • Oligosynaptic infertility1 test
  • Olmsted syndrome 12 tests
  • Onion bulb formation1 test
  • Oocyte maturation defect1 test
  • Opacification of the corneal stroma1 test
  • Ophthalmoplegia1 test
  • Opitz GBBB syndrome, type I1 test
  • Opsismodysplasia2 tests
  • Optic atrophy2 tests
  • Optic atrophy 32 tests
  • Optic atrophy 71 test
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy3 tests
  • Optic nerve hypoplasia, bilateral1 test
  • Ornithine aminotransferase deficiency1 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Orofacial cleft 101 test
  • Orofacial cleft 111 test
  • Orofacial cleft 51 test
  • Orofacial cleft 6, susceptibility to1 test
  • Orofacial cleft 71 test
  • Orofacial-digital syndrome IV1 test
  • Orofaciodigital syndrome I2 tests
  • Orofaciodigital syndrome type 61 test
  • Orofaciodigital syndrome V1 test
  • Orofaciodigital syndrome xiv1 test
  • Orotic aciduria1 test
  • Orthostatic hypotension 11 test
  • Orthostatic intolerance1 test
  • Osteocraniostenosis1 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteogenesis imperfecta2 tests
  • Osteogenesis imperfecta type 102 tests
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 82 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I3 tests
  • Osteogenesis imperfecta type III1 test
  • Osteogenesis imperfecta with normal sclerae, dominant form1 test
  • Osteogenesis imperfecta, recessive perinatal lethal2 tests
  • Osteogenesis imperfecta, type 181 test
  • Osteogenesis imperfecta, type 191 test
  • Osteogenesis imperfecta, type III/IV1 test
  • Osteogenesis imperfecta, type VI2 tests
  • Osteogenesis imperfecta, type XI1 test
  • Osteogenesis imperfecta, type xiii2 tests
  • Osteogenesis imperfecta, type xiv2 tests
  • Osteogenesis imperfecta, type xv2 tests
  • Osteogenesis imperfecta, type xvi2 tests
  • Osteogenesis imperfecta, type xvii1 test
  • Osteoglophonic dysplasia2 tests
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis1 test
  • Osteopathia striata with cranial sclerosis2 tests
  • Osteopenia1 test
  • Osteopetrosis with renal tubular acidosis2 tests
  • Osteopetrosis, autosomal recessive 52 tests
  • Osteoporosis with pseudoglioma1 test
  • Oto-palato-digital syndrome, type I2 tests
  • Oto-palato-digital syndrome, type II2 tests
  • Otofaciocervical syndrome1 test
  • Otospondylomegaepiphyseal dysplasia2 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 21 test
  • Oxoglutaricaciduria1 test
  • Pachygyria1 test
  • Pachyonychia congenita 11 test
  • Pachyonychia congenita 22 tests
  • Pachyonychia congenita 31 test
  • Pachyonychia congenita 41 test
  • Paget disease of bone1 test
  • Pallister-Hall syndrome1 test
  • Palmoplantar carcinoma, multiple self-healing1 test
  • Palmoplantar keratoderma i, striate, focal, or diffuse1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Palmoplantar keratoderma, punctate type 1A1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Pancreatic agenesis 21 test
  • Pancreatic agenesis and congenital heart disease1 test
  • Pancreatic cancer 21 test
  • Pancreatic cancer 31 test
  • Pancreatic cancer 41 test
  • Pancreatitis4 tests
  • Panhypopituitarism, X-linked2 tests
  • Papillon-Lefèvre syndrome1 test
  • Paragangliomas 12 tests
  • Paragangliomas 41 test
  • Paragangliomas 51 test
  • Paramyotonia congenita of von Eulenburg1 test
  • Parastremmatic dwarfism2 tests
  • Parietal foramina 11 test
  • Parietal foramina 21 test
  • Parkes Weber syndrome1 test
  • Parkinson disease1 test
  • Parkinson disease 12 tests
  • Parkinson disease 111 test
  • Parkinson disease 132 tests
  • Parkinson disease 142 tests
  • Parkinson disease 152 tests
  • Parkinson disease 172 tests
  • Parkinson disease 19a, juvenile-onset2 tests
  • Parkinson disease 22 tests
  • Parkinson disease 20, early-onset2 tests
  • Parkinson disease 212 tests
  • Parkinson disease 42 tests
  • Parkinson disease 52 tests
  • Parkinson disease 6, autosomal recessive early-onset2 tests
  • Parkinson disease 72 tests
  • Parkinson disease 8, autosomal dominant2 tests
  • Parkinson disease, late-onset2 tests
  • Parkinsonism with spasticity, X-linked2 tests
  • Parkinsonism-dystonia, infantile1 test
  • Parkinsonism-dystonia, infantile, 11 test
  • Paroxysmal familial ventricular fibrillation 11 test
  • Paroxysmal nonkinesigenic dyskinesia 13 tests
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1 test
  • Partial albinism2 tests
  • Partington syndrome2 tests
  • Paternal uniparental disomy of chromosome 141 test
  • Peeling skin syndrome 11 test
  • Peeling skin syndrome 22 tests
  • Peeling skin syndrome 31 test
  • Peeling skin syndrome 41 test
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads1 test
  • Pelger-Huët anomaly1 test
  • Pelizaeus-Merzbacher disease2 tests
  • Pelvic organ prolapse, susceptibility to1 test
  • Pelviscapular dysplasia1 test
  • Pena-Shokeir syndrome type I1 test
  • Pendred syndrome2 tests
  • Pericardial lymphangiectasia1 test
  • Periodic fever syndrome1 test
  • Peripheral axonal neuropathy1 test
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1 test
  • Peripheral neuropathy1 test
  • Periventricular gray matter heterotopia1 test
  • Periventricular heterotopia with microcephaly1 test
  • Periventricular nodular heterotopia1 test
  • Periventricular nodular heterotopia 14 tests
  • Perlman syndrome1 test
  • Permanent neonatal diabetes mellitus1 test
  • Peroxisomal acyl-CoA oxidase deficiency1 test
  • Peroxisome biogenesis disorder 10A1 test
  • Peroxisome biogenesis disorder 14B1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)11 tests
  • Peroxisome biogenesis disorder 1B1 test
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 test
  • Perrault syndrome1 test
  • Perrault syndrome 21 test
  • Perrault syndrome 41 test
  • Perrault syndrome 51 test
  • Perry syndrome1 test
  • Persistent hyperplastic primary vitreous, autosomal recessive1 test
  • Persistent mullerian duct syndrome, type I1 test
  • Persistent mullerian duct syndrome, type II1 test
  • Pes cavus1 test
  • Pes planus1 test
  • Peters plus syndrome1 test
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome1 test
  • Pfeiffer syndrome4 tests
  • Phenylketonuria1 test
  • Pheochromocytoma7 tests
  • Phosphate transport defect1 test
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
  • Phosphoglycerate dehydrogenase deficiency1 test
  • Phosphoglycerate kinase 1 deficiency1 test
  • Phosphoribosylpyrophosphate synthetase superactivity2 tests
  • Phosphoserine aminotransferase deficiency1 test
  • Phytanic acid storage disease5 tests
  • Pick disease1 test
  • Pigmentary pallidal degeneration1 test
  • Pigmentary retinal dystrophy2 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented paravenous chorioretinal atrophy1 test
  • Pili torti-deafness syndrome1 test
  • Pitt-Hopkins syndrome3 tests
  • Pitt-Hopkins-like syndrome 12 tests
  • Pitt-Hopkins-like syndrome 21 test
  • Pituitary dependent hypercortisolism1 test
  • Pituitary hormone deficiency, combined1 test
  • Pituitary hormone deficiency, combined 21 test
  • Pituitary hormone deficiency, combined, 11 test
  • Pityriasis rubra pilaris1 test
  • Plasminogen deficiency, type I1 test
  • Platelet glycoprotein IV deficiency1 test
  • Platelet-type bleeding disorder 151 test
  • Platelet-type bleeding disorder 171 test
  • Platelet-type bleeding disorder 81 test
  • Platelet-type bleeding disorder 91 test
  • Platyspondylic dysplasia, Torrance type2 tests
  • Pleuropulmonary blastoma1 test
  • Pneumothorax, primary spontaneous1 test
  • Poikiloderma with neutropenia1 test
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease, adult type4 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly2 tests
  • Polycystic liver disease1 test
  • Polycystic ovaries2 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polyglucosan body myopathy 1 with or without immunodeficiency1 test
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
  • Polymicrogyria1 test
  • Polymicrogyria with optic nerve hypoplasia2 tests
  • Polymicrogyria, asymmetric3 tests
  • Polymicrogyria, bilateral frontoparietal2 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1 test
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 2D2 tests
  • Pontocerebellar hypoplasia type 41 test
  • Pontocerebellar hypoplasia type 51 test
  • Pontocerebellar hypoplasia type 61 test
  • Pontocerebellar hypoplasia type 81 test
  • Pontocerebellar hypoplasia, type 101 test
  • Pontocerebellar hypoplasia, type 1b2 tests
  • Pontocerebellar hypoplasia, type 2e1 test
  • Pontocerebellar hypoplasia, type 91 test
  • Pontoneocerebellar hypoplasia2 tests
  • Poor eye contact1 test
  • Poor head control1 test
  • Poor speech1 test
  • Popliteal pterygium syndrome1 test
  • Porencephaly 25 tests
  • Poretti-Boltshauser syndrome1 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Porphobilinogen synthase deficiency1 test
  • Porphyria1 test
  • Porphyria cutanea tarda1 test
  • Portal hypertension, noncirrhotic1 test
  • Postaxial hand polydactyly1 test
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • Posterior polymorphous corneal dystrophy 11 test
  • Postnatal microcephaly1 test
  • Potassium-aggravated myotonia2 tests
  • Prader-Willi syndrome4 tests
  • Precocious puberty in males1 test
  • Preeclampsia/eclampsia 51 test
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Premature ovarian failure 11 test
  • Primary adrenocortical insufficiency1 test
  • Primary aldosteronism, seizures, and neurologic abnormalities1 test
  • Primary amenorrhea1 test
  • Primary autosomal recessive microcephaly 11 test
  • Primary autosomal recessive microcephaly 111 test
  • Primary autosomal recessive microcephaly 121 test
  • Primary autosomal recessive microcephaly 131 test
  • Primary autosomal recessive microcephaly 22 tests
  • Primary autosomal recessive microcephaly 31 test
  • Primary autosomal recessive microcephaly 42 tests
  • Primary autosomal recessive microcephaly 52 tests
  • Primary autosomal recessive microcephaly 61 test
  • Primary autosomal recessive microcephaly 71 test
  • Primary autosomal recessive microcephaly 81 test
  • Primary ciliary dyskinesia1 test
  • Primary ciliary dyskinesia 231 test
  • Primary ciliary dyskinesia 241 test
  • Primary ciliary dyskinesia 251 test
  • Primary dilated cardiomyopathy3 tests
  • Primary erythromelalgia1 test
  • Primary familial hypertrophic cardiomyopathy1 test
  • Primary familial polycythemia due to EPO receptor mutation1 test
  • Primary hyperoxaluria, type I1 test
  • Primary hyperoxaluria, type II1 test
  • Primary hyperoxaluria, type III1 test
  • Primary hypertrophic osteoarthropathy, autosomal recessive 22 tests
  • Primary hypomagnesemia1 test
  • Primary immunodeficiency1 test
  • Primary localized cutaneous amyloidosis 11 test
  • Primary open angle glaucoma1 test
  • Primary pulmonary hypertension 11 test
  • Progressive bulbar palsy of childhood1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 62 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 13 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 22 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 42 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
  • Progressive familial heart block1 test
  • Progressive familial heart block, type 1A1 test
  • Progressive familial intrahepatic cholestasis 21 test
  • Progressive familial intrahepatic cholestasis 31 test
  • Progressive hearing impairment1 test
  • Progressive myositis ossificans1 test
  • Progressive osseous heteroplasia1 test
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive sclerosing poliodystrophy2 tests
  • Prolactin-producing pituitary gland adenoma1 test
  • Prolidase deficiency1 test
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome1 test
  • Proline dehydrogenase deficiency1 test
  • Prolonged QT interval1 test
  • Prominent forehead1 test
  • Proopiomelanocortin deficiency1 test
  • Propionic acidemia2 tests
  • Proprotein convertase 1/3 deficiency1 test
  • Proptosis1 test
  • Prostate cancer, hereditary, 11 test
  • Proteasome-associated autoinflammatory syndrome 11 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Prothrombin deficiency, congenital2 tests
  • Protoporphyria, erythropoietic, 11 test
  • Protoporphyria, erythropoietic, X-linked1 test
  • Prune belly syndrome1 test
  • Pseudo von Willebrand disease1 test
  • Pseudo-Hurler polydystrophy2 tests
  • Pseudo-TORCH syndrome1 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • Pseudohypoaldosteronism1 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoparathyroidism1 test
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudopseudohypoparathyroidism1 test
  • Pseudoxanthoma elasticum2 tests
  • Pseudoxanthoma elasticum, forme fruste1 test
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency1 test
  • Psoriasis 11, susceptibility to1 test
  • Psoriasis susceptibility 22 tests
  • Ptosis1 test
  • Pulmonary alveolar proteinosis1 test
  • Pulmonary arterial hypertension1 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 41 test
  • Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia1 test
  • Pulmonary lymphangiectasia1 test
  • Pulmonary surfactant metabolism dysfunction2 tests
  • Pulmonary venoocclusive disease 11 test
  • Purine-nucleoside phosphorylase deficiency2 tests
  • Pustular psoriasis, generalized1 test
  • Pyknodysostosis3 tests
  • Pyle metaphyseal dysplasia1 test
  • Pyloric stenosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate carboxylase deficiency3 tests
  • Pyruvate dehydrogenase E1-alpha deficiency2 tests
  • Pyruvate dehydrogenase E1-beta deficiency1 test
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency1 test
  • Pyruvate kinase deficiency of red cells1 test
  • Radial aplasia-thrombocytopenia syndrome1 test
  • Rapadilino syndrome1 test
  • Rapp-Hodgkin ectodermal dysplasia syndrome2 tests
  • RAS-associated autoimmune leukoproliferative disorder1 test
  • Recurrent respiratory infections1 test
  • Reduced number of teeth1 test
  • Reduced tendon reflexes1 test
  • Reduced visual acuity1 test
  • Renal cell carcinoma, nonpapillary1 test
  • Renal cell carcinoma, papillary, 11 test
  • Renal coloboma syndrome1 test
  • Renal cyst1 test
  • Renal cysts and diabetes syndrome2 tests
  • Renal dysplasia6 tests
  • Renal dysplasia and retinal aplasia1 test
  • Renal dysplasia, cystic, susceptibility to2 tests
  • Renal hypomagnesemia 21 test
  • Renal hypoplasia2 tests
  • Renal hypouricemia 21 test
  • Renal tubular acidosis1 test
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular acidosis, distal, autosomal recessive1 test
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
  • Renal-hepatic-pancreatic dysplasia 11 test
  • Renpenning syndrome 12 tests
  • Respiratory insufficiency1 test
  • Respiratory insufficiency due to muscle weakness1 test
  • Restrictive cardiomyopathy1 test
  • Reticular dysgenesis2 tests
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal cone dystrophy 41 test
  • Retinal degeneration1 test
  • Retinal detachment1 test
  • Retinal dysplasia1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities1 test
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome1 test
  • Retinal flecks1 test
  • Retinal macular dystrophy type 21 test
  • Retinitis pigmentosa1 test
  • Retinitis pigmentosa 11 test
  • Retinitis pigmentosa 101 test
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 121 test
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 141 test
  • Retinitis pigmentosa 151 test
  • Retinitis pigmentosa 171 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 232 tests
  • Retinitis pigmentosa 251 test
  • Retinitis pigmentosa 261 test
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 301 test
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 391 test
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 481 test
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 501 test
  • Retinitis pigmentosa 511 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 661 test
  • Retinitis pigmentosa 72 tests
  • Retinitis pigmentosa 741 test
  • Retinitis pigmentosa 91 test
  • Retinitis pigmentosa, juvenile1 test
  • Retinitis pigmentosa, juvenile, autosomal recessive1 test
  • Retinitis punctata albescens1 test
  • Retinoschisis1 test
  • Rett syndrome2 tests
  • Rett syndrome, congenital variant2 tests
  • Rett syndrome, preserved speech variant1 test
  • Revesz syndrome1 test
  • Rheumatoid arthritis2 tests
  • Rhizomelic chondrodysplasia punctata type 13 tests
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Rhizomelic chondrodysplasia punctata type 51 test
  • Rigidity1 test
  • Ring dermoid of cornea1 test
  • Rippling muscle disease1 test
  • Rippling muscle disease 21 test
  • Ritscher-Schinzel syndrome 11 test
  • Roberts-SC phocomelia syndrome2 tests
  • Robinow syndrome, autosomal dominant 11 test
  • Robinow syndrome, autosomal dominant 21 test
  • Robinow syndrome, autosomal recessive1 test
  • Robinow-Sorauf syndrome1 test
  • Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2 tests
  • Rothmund-Thomson syndrome1 test
  • Rotor syndrome2 tests
  • Roussy-Lévy syndrome2 tests
  • Rubinstein-Taybi syndrome3 tests
  • Russell-Silver syndrome3 tests
  • Saccharopinuria1 test
  • Sacral agenesis with vertebral anomalies1 test
  • Sacral dimple1 test
  • Saethre-Chotzen syndrome3 tests
  • Saldino-Mainzer syndrome2 tests
  • Salla disease2 tests
  • Sandhoff disease3 tests
  • Sarcosine dehydrogenase deficiency1 test
  • Sarcotubular myopathy1 test
  • Scaphocephaly, maxillary retrusion, and mental retardation1 test
  • Schaaf-Yang syndrome1 test
  • Schimke immuno-osseous dysplasia1 test
  • Schinzel phocomelia syndrome1 test
  • Schinzel-Giedion syndrome1 test
  • Schizencephaly2 tests
  • Schizophrenia1 test
  • Schizophrenia 151 test
  • Schizophrenia 171 test
  • Schneckenbecken dysplasia2 tests
  • Schuurs-hoeijmakers syndrome1 test
  • Schwartz-Jampel syndrome3 tests
  • Sclerosteosis 11 test
  • Sclerosteosis 21 test
  • Scoliosis2 tests
  • Scoliosis, idiopathic 31 test
  • Scrotal hypoplasia1 test
  • Sea-blue histiocyte syndrome1 test
  • Seckel syndrome2 tests
  • Seckel syndrome 11 test
  • Seckel syndrome 21 test
  • Seckel syndrome 41 test
  • Seckel syndrome 51 test
  • Seckel syndrome 62 tests
  • Seckel syndrome 71 test
  • Secondary hypothyroidism1 test
  • Seizures3 tests
  • Seizures, benign familial infantile, 21 test
  • Seizures, benign familial infantile, 32 tests
  • Seizures, benign neonatal, 11 test
  • Seizures, benign neonatal, 21 test
  • Seizures, scoliosis, and macrocephaly syndrome1 test
  • Selective tooth agenesis 11 test
  • Sengers syndrome1 test
  • Senile hyperkeratosis1 test
  • Senior-Loken syndrome 51 test
  • Senior-Loken syndrome 61 test
  • Senior-Loken syndrome 71 test
  • Senior-Loken syndrome 81 test
  • Sensorineural hearing loss1 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
  • Sensory axonal neuropathy1 test
  • Septo-optic dysplasia sequence2 tests
  • SERKAL syndrome2 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
  • Severe combined immunodeficiency due to ADA deficiency3 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency1 test
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation2 tests
  • Severe combined immunodeficiency, athabascan-type1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive3 tests
  • Severe combined immunodeficiency, B cell-negative1 test
  • Severe congenital neutropenia 2, autosomal dominant1 test
  • Severe congenital neutropenia 4, autosomal recessive1 test
  • Severe congenital neutropenia 5, autosomal recessive1 test
  • Severe congenital neutropenia 6, autosomal recessive1 test
  • Severe muscular hypotonia1 test
  • Severe myoclonic epilepsy in infancy4 tests
  • Severe neonatal-onset encephalopathy with microcephaly2 tests
  • Severe X-linked myotubular myopathy1 test
  • Short 4th metacarpal1 test
  • Short clavicles1 test
  • Short fourth metatarsal1 test
  • Short nose1 test
  • Short palpebral fissure1 test
  • Short philtrum1 test
  • short QT syndrome1 test
  • Short QT syndrome 11 test
  • Short QT syndrome 21 test
  • Short QT syndrome 31 test
  • Short rib-polydactyly syndrome, Majewski type2 tests
  • Short stature, idiopathic, autosomal1 test
  • Short stature, idiopathic, X-linked1 test
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
  • SHORT syndrome1 test
  • Short-rib thoracic dysplasia 10 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 14 with polydactyly1 test
  • Short-rib thoracic dysplasia 15 with polydactyly1 test
  • Short-rib thoracic dysplasia 16 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 3 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
  • Shprintzen syndrome1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis1 test
  • Sialidosis type 21 test
  • Sialidosis type I1 test
  • Sick sinus syndrome 1, autosomal recessive1 test
  • Sick sinus syndrome 3, susceptibility to1 test
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Simpson-Golabi-Behmel syndrome, type 21 test
  • Sinoatrial node dysfunction and deafness2 tests
  • Situs ambiguus1 test
  • Sjögren-Larsson syndrome1 test
  • Skeletal defects, genital hypoplasia, and mental retardation2 tests
  • Skeletal dysplasia2 tests
  • Skeletal muscle atrophy2 tests
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome1 test
  • Skin/hair/eye pigmentation, variation in, 61 test
  • SLC35A2-CDG1 test
  • Slowed nerve conduction velocity, autosomal dominant1 test
  • Smith-Lemli-Opitz syndrome2 tests
  • Smith-Magenis syndrome2 tests
  • Smith-McCort dysplasia1 test
  • Sodium serum level quantitative trait locus 11 test
  • Somatotroph adenoma1 test
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome 12 tests
  • Sotos syndrome 21 test
  • Spastic ataxia 5, autosomal recessive1 test
  • Spastic paraplegia1 test
  • Spastic paraplegia 11, autosomal recessive1 test
  • Spastic paraplegia 173 tests
  • Spastic Paraplegia 281 test
  • Spastic paraplegia 28, autosomal recessive1 test
  • Spastic paraplegia 30, autosomal recessive2 tests
  • Spastic paraplegia 31, autosomal dominant2 tests
  • Spastic paraplegia 33, autosomal dominant1 test
  • Spastic paraplegia 351 test
  • Spastic paraplegia 4, autosomal dominant1 test
  • Spastic paraplegia 42, autosomal dominant1 test
  • Spastic paraplegia 43, autosomal recessive1 test
  • Spastic paraplegia 44, autosomal recessive1 test
  • Spastic paraplegia 45, autosomal recessive1 test
  • Spastic paraplegia 46, autosomal recessive1 test
  • Spastic paraplegia 47, autosomal recessive1 test
  • Spastic paraplegia 48, autosomal recessive1 test
  • Spastic paraplegia 49, autosomal recessive2 tests
  • Spastic paraplegia 50, autosomal recessive2 tests
  • Spastic paraplegia 51, autosomal recessive1 test
  • Spastic paraplegia 52, autosomal recessive1 test
  • Spastic paraplegia 53, autosomal recessive1 test
  • Spastic paraplegia 54, autosomal recessive1 test
  • Spastic paraplegia 55, autosomal recessive1 test
  • Spastic paraplegia 56, autosomal recessive1 test
  • Spastic paraplegia 57, autosomal recessive1 test
  • Spastic paraplegia 61, autosomal recessive1 test
  • Spastic paraplegia 62, autosomal recessive1 test
  • Spastic paraplegia 63, autosomal recessive1 test
  • Spastic paraplegia 64, autosomal recessive1 test
  • Spastic paraplegia 72, autosomal recessive2 tests
  • Spastic paraplegia 73, autosomal dominant1 test
  • Spastic paraplegia 74, autosomal recessive1 test
  • Spastic paraplegia 76, autosomal recessive1 test
  • Spastic tetraplegia1 test
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly1 test
  • Spasticity1 test
  • Specific learning disability1 test
  • Speech-language disorder 11 test
  • Spermatogenic failure 41 test
  • Spermatogenic failure 71 test
  • Spermatogenic failure 81 test
  • Spermatogenic failure 91 test
  • Spherocytosis1 test
  • Spherocytosis type 11 test
  • Spherocytosis type 21 test
  • Spherocytosis type 31 test
  • Spherocytosis type 51 test
  • Spheroid body myopathy1 test
  • Sphingolipid activator protein 1 deficiency2 tests
  • Spina bifida, folate-sensitive1 test
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy, distal, autosomal recessive, 11 test
  • Spinal muscular atrophy, distal, autosomal recessive, 52 tests
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant3 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
  • Spinocerebellar ataxia 29, congenital nonprogressive1 test
  • Spinocerebellar ataxia 351 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar ataxia type 141 test
  • Spinocerebellar Ataxia Type 151 test
  • Spinocerebellar ataxia type 181 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 281 test
  • Spinocerebellar ataxia type 41 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia, autosomal recessive 101 test
  • Spinocerebellar ataxia, autosomal recessive 121 test
  • Spinocerebellar ataxia, autosomal recessive 131 test
  • Spinocerebellar ataxia, autosomal recessive 151 test
  • Spinocerebellar ataxia, autosomal recessive 171 test
  • Spinocerebellar ataxia, autosomal recessive 181 test
  • Spinocerebellar ataxia, autosomal recessive 81 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • Spinocerebellar ataxia, X-linked 11 test
  • Splenomegaly1 test
  • Split-hand/foot malformation 1 with sensorineural hearing loss1 test
  • Split-hand/foot malformation 61 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia2 tests
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like2 tests
  • Spondylocostal dysostosis 1, autosomal recessive1 test
  • Spondylocostal dysostosis 2, autosomal recessive1 test
  • Spondylocostal dysostosis 3, autosomal recessive1 test
  • Spondylocostal dysostosis 51 test
  • Spondyloenchondrodysplasia with immune dysregulation1 test
  • Spondyloepimetaphyseal dysplasia Matrilin-3 related1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita2 tests
  • Spondyloepiphyseal dysplasia Maroteaux type1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondylometaphyseal dysplasia1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spondyloperipheral dysplasia-short ulna syndrome1 test
  • Spongy degeneration of central nervous system1 test
  • Squamous cell carcinoma of the head and neck1 test
  • Stargardt disease1 test
  • Stargardt disease 12 tests
  • Stargardt Disease 31 test
  • Stargardt disease 41 test
  • Steatocystoma multiplex1 test
  • Steppage gait1 test
  • Stickler syndrome1 test
  • Stickler syndrome type 11 test
  • Stickler syndrome type 21 test
  • Stickler syndrome, type 41 test
  • Stickler syndrome, type 51 test
  • Stickler syndrome, type I, nonsyndromic ocular1 test
  • Stiff skin syndrome2 tests
  • Sting-associated vasculopathy, infantile-onset1 test
  • Stocco dos Santos syndrome1 test
  • Stormorken syndrome1 test
  • Striatal Degeneration1 test
  • Striatal necrosis, bilateral, and progressive polyneuropathy1 test
  • Sturge-Weber syndrome1 test
  • Stüve-Wiedemann syndrome2 tests
  • Subarterial ventricular septal defect1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Sucrase-isomaltase deficiency1 test
  • Sudden cardiac death1 test
  • SUDDEN INFANT DEATH SYNDROME1 test
  • Sudden infant death with dysgenesis of the testes syndrome1 test
  • Sunken cheeks1 test
  • Supravalvar aortic stenosis2 tests
  • Surfactant metabolism dysfunction, pulmonary, 11 test
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 31 test
  • Surfactant metabolism dysfunction, pulmonary, 41 test
  • Surfactant metabolism dysfunction, pulmonary, 51 test
  • Susceptibility to strabismus2 tests
  • Sveinsson chorioretinal atrophy1 test
  • Symmetrical dyschromatosis of extremities1 test
  • Syndactyly type 11 test
  • Syndactyly, type V1 test
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
  • Syndromic mental retardation, Nascimento type, X-linked1 test
  • Syndromic microphthalmia type 51 test
  • Syndromic X-linked intellectual disability Lubs type2 tests
  • Syndromic X-linked intellectual disability Siderius type1 test
  • Syndromic X-linked intellectual disability Snyder type1 test
  • Syndromic X-linked mental retardation, Cabezas type1 test
  • Systemic lupus erythematosus1 test
  • Systemic lupus erythematosus 161 test
  • Systemic lupus erythematosus, susceptibility to1 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy2 tests
  • Tangier disease1 test
  • TARP syndrome1 test
  • Tay-Sachs disease2 tests
  • Tay-Sachs disease, variant AB2 tests
  • Teeth, supernumerary1 test
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Telecanthus1 test
  • Temple syndrome1 test
  • Temple-Baraitser syndrome1 test
  • Temtamy preaxial brachydactyly syndrome1 test
  • Temtamy syndrome1 test
  • Tented upper lip vermilion1 test
  • Terminal osseous dysplasia2 tests
  • Testicular anomalies with or without congenital heart disease1 test
  • Testosterone 17-beta-dehydrogenase deficiency1 test
  • Tetraamelia, autosomal recessive1 test
  • Tetralogy of Fallot4 tests
  • Thanatophoric dysplasia type 13 tests
  • Thanatophoric dysplasia, type 23 tests
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)1 test
  • Thin upper lip vermilion1 test
  • Thiopurine methyltransferase deficiency1 test
  • Three M syndrome 11 test
  • Three M syndrome 21 test
  • Three M syndrome 31 test
  • Thrombocytopenia1 test
  • Thrombocytopenia 11 test
  • Thrombocytopenia 22 tests
  • Thrombocytopenia 41 test
  • Thrombocytopenia 51 test
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis1 test
  • Thrombocytopenia, X-linked, intermittent1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to thrombin defect2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia, X-linked, due to factor IX defect1 test
  • Thrombotic thrombocytopenic purpura1 test
  • Thromboxane synthase deficiency1 test
  • Thyroglobulin synthesis defect1 test
  • Thyroid cancer, nonmedullary, 22 tests
  • Thyroid dyshormonogenesis 11 test
  • Thyroid dyshormonogenesis 62 tests
  • Thyroid hormone metabolism, abnormal1 test
  • Thyroid hormone resistance syndrome1 test
  • Thyrotoxic periodic paralysis 21 test
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Tibial muscular dystrophy1 test
  • Tietz syndrome1 test
  • Timothy syndrome1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Tooth agenesis, selective, 31 test
  • Torsion dystonia1 test
  • Torsion dystonia 21 test
  • Torsion dystonia 62 tests
  • Torticollis2 tests
  • Tourette syndrome1 test
  • Townes-Brocks syndrome 11 test
  • Transcolabamin II deficiency1 test
  • Transient neonatal diabetes mellitus 11 test
  • Transient neonatal diabetes mellitus 21 test
  • Transposition of the great arteries, dextro-looped 11 test
  • Transposition of the great arteries, dextro-looped 31 test
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Treacher Collins syndrome 31 test
  • Tremor1 test
  • Tremor, hereditary essential, 42 tests
  • Tricho-dento-osseous syndrome1 test
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichothiodystrophy3 tests
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy, nonphotosensitive 12 tests
  • Triglyceride storage disease with ichthyosis1 test
  • Trigonocephaly 12 tests
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency2 tests
  • Triploidy1 test
  • Troyer syndrome2 tests
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 22 tests
  • Tuberous sclerosis syndrome2 tests
  • Tubulin, beta1 test
  • Tuftelin deficiency1 test
  • Tumor susceptibility linked to germline BAP1 mutations2 tests
  • Turcot syndrome4 tests
  • Turner syndrome1 test
  • Type 2 diabetes mellitus3 tests
  • Type III lissencephaly2 tests
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Tyrosinase-positive oculocutaneous albinism1 test
  • Tyrosinemia type 31 test
  • Tyrosinemia type I3 tests
  • Tyrosinemia type II1 test
  • UDPglucose-4-epimerase deficiency1 test
  • Ullrich congenital muscular dystrophy3 tests
  • Ullrich congenital muscular dystrophy 11 test
  • Ullrich congenital muscular dystrophy 21 test
  • Ulnar-mammary syndrome1 test
  • Underdeveloped nasal alae1 test
  • Unverricht-Lundborg syndrome1 test
  • Urinary bladder cancer1 test
  • Urinary incontinence1 test
  • Urocanate hydratase deficiency1 test
  • Urofacial syndrome 11 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type ID/F, CDH23/PCDH15, digenic1 test
  • Usher syndrome, type 1G1 test
  • Usher syndrome, type 1J1 test
  • Usher syndrome, type 2C2 tests
  • Usher syndrome, type 2D1 test
  • Usher Syndrome, Type III1 test
  • UV-sensitive syndrome 11 test
  • UV-sensitive syndrome 31 test
  • VACTERL association with hydrocephalus1 test
  • Van den Ende-Gupta syndrome1 test
  • van der Woude syndrome 11 test
  • Van der Woude syndrome 21 test
  • Van Maldergem syndrome 11 test
  • Van Maldergem syndrome 21 test
  • Variegate porphyria1 test
  • VATER association1 test
  • Ventricular septal defect1 test
  • Ventricular septal defect 21 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 21 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 41 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1 test
  • Ventriculomegaly with cystic kidney disease1 test
  • Very long chain acyl-CoA dehydrogenase deficiency3 tests
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Vici syndrome1 test
  • Visceral myopathy1 test
  • Visual impairment1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblA1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblB1 test
  • Vitamin d hydroxylation-deficient rickets, type 1b1 test
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitamin D-dependent rickets, type 11 test
  • Vitamin K-dependent clotting factors, combined deficiency of, 11 test
  • Vitelliform macular dystrophy2 tests
  • Vitiligo-associated multiple autoimmune disease susceptibility 11 test
  • Vitreoretinochoroidopathy1 test
  • Vohwinkel syndrome, variant form2 tests
  • Von Hippel-Lindau syndrome1 test
  • von Willebrand disorder1 test
  • Waardenburg syndrome1 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4C1 test
  • Wagner syndrome2 tests
  • Walker-Warburg congenital muscular dystrophy4 tests
  • Warburg micro syndrome2 tests
  • Warburg micro syndrome 14 tests
  • Warburg micro syndrome 22 tests
  • Warburg micro syndrome 32 tests
  • Warfarin response2 tests
  • Warsaw breakage syndrome1 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
  • Weaver syndrome1 test
  • Webb-Dattani syndrome1 test
  • Weill-Marchesani syndrome 11 test
  • Weill-Marchesani syndrome 21 test
  • Weill-Marchesani syndrome 31 test
  • Werdnig-Hoffmann disease1 test
  • Werner syndrome1 test
  • White-sutton syndrome2 tests
  • Wide anterior fontanel1 test
  • Wide cranial sutures1 test
  • Wide nasal bridge1 test
  • Wieacker-Wolff syndrome1 test
  • Wiedemann-Steiner syndrome1 test
  • Williams syndrome1 test
  • Wilms tumor 11 test
  • Wilms tumor 41 test
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome2 tests
  • Wilson disease1 test
  • Wilson-Turner syndrome1 test
  • Winchester syndrome1 test
  • Wolcott-Rallison dysplasia1 test
  • Wolff-Parkinson-White pattern1 test
  • Wolfram syndrome 12 tests
  • Wolfram syndrome 22 tests
  • Wolfram-like syndrome, autosomal dominant1 test
  • Wolman disease2 tests
  • Wrinkly skin syndrome2 tests
  • X-linked agammaglobulinemia2 tests
  • X-linked agammaglobulinemia with growth hormone deficiency1 test
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked cone-rod dystrophy 31 test
  • X-linked dystonia-parkinsonism2 tests
  • X-linked hydrocephalus syndrome2 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency2 tests
  • X-linked intellectual disability2 tests
  • X-linked intellectual disability-hypotonic face syndrome1 test
  • X-Linked Mental Retardation 411 test
  • X-Linked Mental Retardation 881 test
  • X-Linked Mental Retardation 891 test
  • X-Linked mental retardation 901 test
  • X-linked mental retardation with marfanoid habitus syndrome4 tests
  • X-linked recessive nephrolithiasis with renal failure1 test
  • X-linked severe combined immunodeficiency1 test
  • X-linked sideroblastic anemia with ataxia1 test
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum group A1 test
  • Xeroderma pigmentosum variant type1 test
  • Xeroderma pigmentosum, group C1 test
  • Xeroderma pigmentosum, group D1 test
  • Xeroderma pigmentosum, group E, DDB-negative subtype1 test
  • Xeroderma pigmentosum, group F1 test
  • Xeroderma pigmentosum, group G1 test
  • XFE progeroid syndrome1 test
  • Xia-Gibbs syndrome1 test
  • Yunis-Varon syndrome1 test
  • ZNF711-Related X-linked Mental Retardation1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling
  • Mutation Confirmation
  • Whole Exome Sequencing
  • Whole Genome Sequencing
  • Non-invasive prenatal testing

List of certifications/licenses

Certifications

  • CAP, Number: 9255117, Expiration date: 2020-04-22
  • IQMH + ISO15198 PLUS, Number: 5806, Expiration date: 2024-01-05
  • Ministry of Health and Long-Term Care license, Number: 5806, Expiration date: 2021-02-12

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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.

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