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GTR Home > Laboratories > Fulgent Genetics

Fulgent Genetics

GTR Lab ID: 500105, Last updated:2022-01-17
Annual Review past due read more

Personnel

  • Director: Hanlin (Harry) Gao, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
    Phone: 626-350-0537
    Fax: 626-454-1667
    Email: harrygao@fulgentgenetics.com
  • Kathryn Howell, BS, Staff
    Phone: 626-350-0537 X106
    Fax: 626-454-1667
    Email: info@fulgentgenetics.com
  • Yuan Xue, PhD, FACMG, Lab Director
    Phone: 626-350-0537
    Fax: 626-454-1667
    Email: info@fulgentgenetics.com

Conditions and tests

  • 11 pairs of ribs2 tests
  • 11p partial monosomy syndrome28 tests
  • 2-3 toe syndactyly6 tests
  • 2-4 toe syndactyly3 tests
  • 2-aminoadipic 2-oxoadipic aciduria5 tests
  • 2-hydroxyglutaric aciduria4 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency9 tests
  • 3-4 finger cutaneous syndactyly3 tests
  • 3-4 finger syndactyly2 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency10 tests
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency11 tests
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency11 tests
  • 3-methylglutaconic aciduria type 118 tests
  • 3-Methylglutaconic aciduria type 217 tests
  • 3-Methylglutaconic aciduria type 318 tests
  • 3-methylglutaconic aciduria type 58 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia6 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency6 tests
  • 3M syndrome 15 tests
  • 3M syndrome 24 tests
  • 3M syndrome 33 tests
  • 3MC syndrome 14 tests
  • 3MC syndrome 24 tests
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency4 tests
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome5 tests
  • 46,XY sex reversal 211 tests
  • 46,XY sex reversal 36 tests
  • 46,XY sex reversal 55 tests
  • 46,XY sex reversal 65 tests
  • 46,XY sex reversal 75 tests
  • 5-Oxoprolinase deficiency2 tests
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency12 tests
  • 8q24.3 microdeletion syndrome1 test
  • Aarskog syndrome8 tests
  • ABCD syndrome7 tests
  • Abdominal aortic aneurysm5 tests
  • Abdominal distention2 tests
  • Abdominal obesity3 tests
  • Abdominal pain11 tests
  • Abdominal situs inversus9 tests
  • Abetalipoproteinaemia13 tests
  • Abnormal abdomen morphology5 tests
  • Abnormal acetabulum morphology8 tests
  • Abnormal activity of mitochondrial respiratory chain1 test
  • Abnormal antihelix morphology3 tests
  • Abnormal antitragus morphology3 tests
  • Abnormal aortic morphology8 tests
  • Abnormal aortic valve morphology3 tests
  • Abnormal aryepiglottic fold morphology1 test
  • Abnormal autonomic nervous system physiology5 tests
  • Abnormal bleeding2 tests
  • Abnormal blistering of the skin14 tests
  • Abnormal buccal mucosa morphology1 test
  • Abnormal cardiac septum morphology23 tests
  • Abnormal carotid artery morphology1 test
  • Abnormal carpal morphology3 tests
  • Abnormal chorioretinal morphology13 tests
  • Abnormal ciliary motility6 tests
  • Abnormal circulating branched chain amino acid concentration5 tests
  • Abnormal circulating lipid concentration1 test
  • Abnormal clavicle morphology14 tests
  • Abnormal columella morphology3 tests
  • Abnormal corpus callosum morphology5 tests
  • Abnormal dental enamel morphology16 tests
  • Abnormal dentin morphology3 tests
  • Abnormal dermatoglyphics17 tests
  • Abnormal electroretinogram25 tests
  • Abnormal endocardium morphology2 tests
  • Abnormal epiphysis morphology7 tests
  • Abnormal erythrocyte morphology2 tests
  • Abnormal eyebrow morphology13 tests
  • Abnormal eyelash morphology11 tests
  • Abnormal eyelid morphology7 tests
  • Abnormal facial shape38 tests
  • Abnormal fingernail morphology25 tests
  • Abnormal foot morphology19 tests
  • Abnormal form of the vertebral bodies12 tests
  • Abnormal gastric mucosa morphology5 tests
  • Abnormal glycosylation1 test
  • Abnormal granulocytopoietic cell morphology3 tests
  • Abnormal hair quantity46 tests
  • Abnormal hair whorl6 tests
  • Abnormal helix morphology30 tests
  • Abnormal hip bone morphology15 tests
  • Abnormal immunoglobulin level3 tests
  • Abnormal intervertebral disk morphology9 tests
  • Abnormal intestine morphology1 test
  • Abnormal left ventricle morphology6 tests
  • Abnormal leukocyte morphology14 tests
  • Abnormal localization of kidney18 tests
  • Abnormal lower motor neuron morphology6 tests
  • Abnormal lung lobation5 tests
  • Abnormal macular morphology14 tests
  • Abnormal megakaryocyte morphology4 tests
  • Abnormal metacarpal morphology29 tests
  • Abnormal metaphysis morphology17 tests
  • Abnormal mitral valve morphology10 tests
  • Abnormal morphology of female internal genitalia26 tests
  • Abnormal morphology of the abdominal musculature2 tests
  • Abnormal nasal morphology11 tests
  • Abnormal nipple morphology17 tests
  • Abnormal nostril morphology3 tests
  • Abnormal oral cavity morphology16 tests
  • Abnormal palate morphology42 tests
  • Abnormal pattern of respiration12 tests
  • Abnormal pelvic girdle bone morphology14 tests
  • Abnormal penis morphology1 test
  • Abnormal pericardium morphology4 tests
  • Abnormal periventricular white matter morphology10 tests
  • Abnormal pinna morphology19 tests
  • Abnormal pleura morphology4 tests
  • Abnormal posturing3 tests
  • Abnormal preputium morphology1 test
  • Abnormal pulmonary interstitial morphology5 tests
  • Abnormal pulmonary valve morphology22 tests
  • Abnormal pupil morphology2 tests
  • Abnormal pyramidal sign14 tests
  • Abnormal renal physiology1 test
  • Abnormal renal tubule morphology6 tests
  • Abnormal retinal vascular morphology20 tests
  • Abnormal rib morphology15 tests
  • Abnormal saccadic eye movements8 tests
  • Abnormal sacrum morphology4 tests
  • Abnormal salivary gland morphology5 tests
  • Abnormal skull morphology2 tests
  • Abnormal sternum morphology16 tests
  • Abnormal testis morphology38 tests
  • Abnormal thorax morphology10 tests
  • Abnormal toenail morphology3 tests
  • Abnormal tragus morphology3 tests
  • Abnormal tricuspid valve morphology8 tests
  • Abnormal vagina morphology2 tests
  • Abnormal vitreous humor morphology13 tests
  • Abnormality of blood and blood-forming tissues2 tests
  • Abnormality of bone marrow cell morphology3 tests
  • Abnormality of bone mineral density12 tests
  • Abnormality of calvarial morphology8 tests
  • Abnormality of chromosome stability2 tests
  • Abnormality of coagulation40 tests
  • Abnormality of connective tissue2 tests
  • Abnormality of dental color10 tests
  • Abnormality of dental morphology12 tests
  • Abnormality of extrapyramidal motor function18 tests
  • Abnormality of eye movement9 tests
  • Abnormality of female external genitalia18 tests
  • Abnormality of femur morphology3 tests
  • Abnormality of fibula morphology2 tests
  • Abnormality of finger9 tests
  • Abnormality of immune system physiology24 tests
  • Abnormality of macular pigmentation2 tests
  • Abnormality of metabolism/homeostasis35 tests
  • Abnormality of mitochondrial metabolism4 tests
  • Abnormality of neutrophils22 tests
  • Abnormality of reproductive system physiology1 test
  • Abnormality of retinal pigmentation54 tests
  • Abnormality of skin pigmentation7 tests
  • Abnormality of temperature regulation6 tests
  • Abnormality of the ankles2 tests
  • Abnormality of the autonomic nervous system13 tests
  • Abnormality of the bronchi9 tests
  • Abnormality of the cardiovascular system1 test
  • Abnormality of the coagulation cascade2 tests
  • Abnormality of the dentition29 tests
  • Abnormality of the diaphragm1 test
  • Abnormality of the endocrine system3 tests
  • Abnormality of the eye11 tests
  • Abnormality of the fontanelles or cranial sutures9 tests
  • Abnormality of the gastrointestinal tract6 tests
  • Abnormality of the genital system14 tests
  • Abnormality of the gingiva1 test
  • Abnormality of the hand5 tests
  • Abnormality of the hypothalamus-pituitary axis16 tests
  • Abnormality of the immune system3 tests
  • Abnormality of the kidney4 tests
  • Abnormality of the larynx4 tests
  • Abnormality of the liver15 tests
  • Abnormality of the lymphatic system6 tests
  • Abnormality of the medullary cavity of the long bones3 tests
  • Abnormality of the menstrual cycle12 tests
  • Abnormality of the musculature5 tests
  • Abnormality of the nail25 tests
  • Abnormality of the nose7 tests
  • Abnormality of the outer ear3 tests
  • Abnormality of the peritoneum2 tests
  • Abnormality of the pharynx15 tests
  • Abnormality of the philtrum2 tests
  • Abnormality of the pulmonary artery17 tests
  • Abnormality of the respiratory system3 tests
  • Abnormality of the sense of smell8 tests
  • Abnormality of the skeletal system11 tests
  • Abnormality of the skin17 tests
  • Abnormality of the spleen22 tests
  • Abnormality of the thymus3 tests
  • Abnormality of the thyroid gland5 tests
  • Abnormality of the tongue6 tests
  • Abnormality of the ulna3 tests
  • Abnormality of the upper urinary tract10 tests
  • Abnormality of the ureter4 tests
  • Abnormality of the urethra1 test
  • Abnormality of the urinary system6 tests
  • Abnormality of the voice26 tests
  • Abnormality of the wrist3 tests
  • Abnormality of thrombocytes19 tests
  • Abnormality of thumb phalanx1 test
  • Abnormality of tibia morphology3 tests
  • Abnormality of toe8 tests
  • Abnormality of visual evoked potentials9 tests
  • Abnormally large globe5 tests
  • Abnormally ossified vertebrae1 test
  • ABri amyloidosis6 tests
  • Abruzzo-Erickson syndrome3 tests
  • Absence of subcutaneous fat2 tests
  • Absent Achilles reflex1 test
  • Absent axillary hair1 test
  • Absent earlobe9 tests
  • Absent facial hair1 test
  • Absent hand7 tests
  • Absent nail of hallux1 test
  • Absent outer dynein arms7 tests
  • Absent radius9 tests
  • Absent septum pellucidum1 test
  • Absent speech28 tests
  • Absent thumb4 tests
  • Acanthocytosis4 tests
  • Acanthosis nigricans2 tests
  • Acatalasia3 tests
  • Accelerated skeletal maturation1 test
  • Accelerated tumor formation, susceptibility to2 tests
  • Accessory oral frenulum7 tests
  • Accessory spleen9 tests
  • Acetabular spurs1 test
  • Acetyl-CoA acetyltransferase-2 deficiency7 tests
  • Acetyl-CoA: carboxylase deficiency4 tests
  • Achalasia4 tests
  • Acheiropodia3 tests
  • Achilles tendon contracture4 tests
  • Achondrogenesis type II20 tests
  • Achondrogenesis, type IA3 tests
  • Achondrogenesis, type IB10 tests
  • Achondroplasia17 tests
  • Achromatopsia4 tests
  • Achromatopsia 25 tests
  • Achromatopsia 311 tests
  • Achromatopsia 45 tests
  • Acidosis3 tests
  • Acne5 tests
  • Acne inversa, familial, 23 tests
  • Acne inversa, familial, 36 tests
  • Acquired hemoglobin H disease12 tests
  • Acquired partial lipodystrophy2 tests
  • Acquired polycythemia vera5 tests
  • Acral peeling skin syndrome4 tests
  • Acrocallosal syndrome13 tests
  • Acrocapitofemoral dysplasia5 tests
  • Acrocephalosyndactyly type I10 tests
  • Acrocyanosis9 tests
  • Acrodysostosis12 tests
  • Acrodysostosis 2 with or without hormone resistance4 tests
  • Acroerythrokeratoderma3 tests
  • Acrofacial dysostosis Cincinnati type1 test
  • Acrokeratosis verruciformis of Hopf6 tests
  • Acromesomelic dysplasia 1, Maroteaux type4 tests
  • Acromesomelic dysplasia 2B4 tests
  • Acromesomelic dysplasia 2C, Hunter-Thompson type4 tests
  • Acromesomelic dysplasia 34 tests
  • Acromicric dysplasia17 tests
  • Acroosteolysis3 tests
  • Actin accumulation myopathy8 tests
  • Action myoclonus-renal failure syndrome8 tests
  • Action tremor1 test
  • Actn3 deficiency1 test
  • Aculeiform cataract3 tests
  • Acute biphenotypic leukemia2 tests
  • Acute febrile mucocutaneous lymph node syndrome3 tests
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins11 tests
  • Acute intermittent porphyria4 tests
  • Acute kidney injury6 tests
  • Acute leukemia8 tests
  • Acute lymphoid leukemia36 tests
  • Acute monocytic leukemia2 tests
  • Acute myeloid leukemia18 tests
  • Acute myelomonocytic leukemia M42 tests
  • Acute promyelocytic leukemia3 tests
  • Acyl-CoA dehydrogenase 9 deficiency14 tests
  • Acyl-CoA oxidase deficiency12 tests
  • Adactyly5 tests
  • Adams-Oliver syndrome3 tests
  • Adams-Oliver syndrome 14 tests
  • Adams-Oliver syndrome 23 tests
  • ADan amyloidosis6 tests
  • Adducted thumb17 tests
  • Adenine phosphoribosyltransferase deficiency3 tests
  • Adenoma sebaceum9 tests
  • Adenomatous colonic polyposis8 tests
  • Adenosine kinase deficiency4 tests
  • Adenylosuccinate lyase deficiency11 tests
  • Adermatoglyphia3 tests
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder4 tests
  • Adolescent alopeciam dentogingival abnormalitites and intellectual disability3 tests
  • Adrenal insufficiency5 tests
  • Adrenal medullary hypoplasia1 test
  • Adrenocortical carcinoma, hereditary27 tests
  • Adrenoleukodystrophy15 tests
  • Adult hypophosphatasia12 tests
  • Adult neuronal ceroid lipofuscinosis17 tests
  • Adult polyglucosan body disease12 tests
  • ADULT syndrome6 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy3 tests
  • Adult-onset foveomacular vitelliform dystrophy12 tests
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant4 tests
  • Advanced sleep phase syndrome 12 tests
  • Advanced sleep phase syndrome 22 tests
  • Afibrinogenemia11 tests
  • Agammaglobulinemia4 tests
  • Agammaglobulinemia 2, autosomal recessive5 tests
  • Agammaglobulinemia 3, autosomal recessive5 tests
  • Agammaglobulinemia 4, autosomal recessive5 tests
  • Agammaglobulinemia 5, autosomal dominant5 tests
  • Agammaglobulinemia 6, autosomal recessive5 tests
  • Agammaglobulinemia 7, autosomal recessive5 tests
  • Aganglionic megacolon2 tests
  • Age related macular degeneration 110 tests
  • Age related macular degeneration 103 tests
  • Age related macular degeneration 113 tests
  • Age related macular degeneration 123 tests
  • Age related macular degeneration 137 tests
  • Age related macular degeneration 146 tests
  • Age related macular degeneration 155 tests
  • Age related macular degeneration 28 tests
  • Age related macular degeneration 49 tests
  • Age related macular degeneration 515 tests
  • Age related macular degeneration 66 tests
  • Age related macular degeneration 76 tests
  • Age related macular degeneration 84 tests
  • Age related macular degeneration 96 tests
  • Agenesis of mandibular central incisor1 test
  • Agenesis of permanent teeth3 tests
  • Agenesis of the corpus callosum with peripheral neuropathy9 tests
  • Aggressive behavior32 tests
  • Agitation2 tests
  • Agnathia-otocephaly complex2 tests
  • AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2 tests
  • AICA-ribosiduria6 tests
  • Aicardi Goutieres syndrome4 tests
  • Aicardi-Goutieres syndrome 19 tests
  • Aicardi-Goutieres syndrome 29 tests
  • Aicardi-Goutieres syndrome 39 tests
  • Aicardi-Goutieres syndrome 49 tests
  • Aicardi-Goutieres syndrome 514 tests
  • Aicardi-Goutieres syndrome 68 tests
  • Aicardi-Goutieres syndrome 74 tests
  • Alacrima4 tests
  • Alacrima, achalasia, and intellectual disability syndrome4 tests
  • Alagille syndrome due to a JAG1 point mutation9 tests
  • Alagille syndrome due to a NOTCH2 point mutation10 tests
  • Albinism3 tests
  • Alcohol dependence7 tests
  • Alcohol sensitivity, acute3 tests
  • ALDH18A1-related de Barsy syndrome8 tests
  • Aldosterone-producing adenoma with seizures and neurological abnormalities4 tests
  • Aldosterone-producing adrenal cortex adenoma3 tests
  • Alexander disease13 tests
  • ALG1-congenital disorder of glycosylation10 tests
  • ALG11-congenital disorder of glycosylation6 tests
  • ALG12-congenital disorder of glycosylation8 tests
  • ALG2-congenital disorder of glycosylation10 tests
  • ALG3-congenital disorder of glycosylation9 tests
  • ALG6-congenital disorder of glycosylation 1C14 tests
  • ALG8 congenital disorder of glycosylation6 tests
  • ALG9 congenital disorder of glycosylation7 tests
  • Alkaptonuria7 tests
  • Allan-Herndon-Dudley syndrome12 tests
  • Allergic rhinitis7 tests
  • Alopecia33 tests
  • Alopecia universalis congenita3 tests
  • Alpers encephalopathy4 tests
  • alpha Thalassemia18 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome12 tests
  • Alpha-1-antitrypsin deficiency8 tests
  • Alpha-2-macroglobulin deficiency3 tests
  • Alpha-2-plasmin inhibitor deficiency4 tests
  • Alpha-fetoprotein deficiency2 tests
  • Alpha-methylacyl-CoA racemase deficiency10 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 15 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 25 tests
  • Alstrom syndrome17 tests
  • Alternating hemiplegia of childhood9 tests
  • Alternating hemiplegia of childhood 27 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment4 tests
  • Alveolar cell carcinoma4 tests
  • Alveolar rhabdomyosarcoma8 tests
  • Alveolar soft part sarcoma1 test
  • Alzheimer disease24 tests
  • Alzheimer disease 182 tests
  • Alzheimer disease 26 tests
  • Alzheimer disease 36 tests
  • Alzheimer disease 410 tests
  • Amaurosis fugax9 tests
  • Ambiguous genitalia22 tests
  • Amblyopia6 tests
  • Amelocerebrohypohidrotic syndrome7 tests
  • Amelogenesis imperfecta6 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local3 tests
  • Amelogenesis imperfecta hypomaturation type 2A23 tests
  • Amelogenesis imperfecta hypomaturation type 2A33 tests
  • Amelogenesis imperfecta hypomaturation type 2A52 tests
  • Amelogenesis imperfecta type 1C3 tests
  • Amelogenesis imperfecta type 1E3 tests
  • Amelogenesis imperfecta type 1G3 tests
  • Amelogenesis imperfecta type 2A13 tests
  • Amelogenesis imperfecta, hypocalcification type3 tests
  • Aminoaciduria18 tests
  • Aminoacylase 1 deficiency8 tests
  • Aminoglycoside-induced deafness11 tests
  • Amish lethal microcephaly7 tests
  • Amyloidogenic transthyretin amyloidosis12 tests
  • Amyloidosis, primary localized cutaneous, 22 tests
  • Amyotrophic lateral sclerosis10 tests
  • Amyotrophic lateral sclerosis type 110 tests
  • Amyotrophic lateral sclerosis type 103 tests
  • Amyotrophic lateral sclerosis type 116 tests
  • Amyotrophic lateral sclerosis type 126 tests
  • Amyotrophic lateral sclerosis type 153 tests
  • Amyotrophic lateral sclerosis type 163 tests
  • Amyotrophic lateral sclerosis type 182 tests
  • Amyotrophic lateral sclerosis type 193 tests
  • Amyotrophic lateral sclerosis type 2, juvenile7 tests
  • Amyotrophic lateral sclerosis type 214 tests
  • Amyotrophic lateral sclerosis type 49 tests
  • Amyotrophic lateral sclerosis type 63 tests
  • Amyotrophic lateral sclerosis type 84 tests
  • Amyotrophic lateral sclerosis type 93 tests
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex5 tests
  • Analbuminemia2 tests
  • Anaphylotoxin inactivator deficiency2 tests
  • Anauxetic dysplasia 116 tests
  • Andersen Tawil syndrome14 tests
  • Androgen insufficiency5 tests
  • Androgen resistance syndrome6 tests
  • ANE syndrome2 tests
  • Anemia40 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency20 tests
  • Anencephaly1 test
  • Aneurysm-osteoarthritis syndrome7 tests
  • Angelman syndrome19 tests
  • Angioid streaks6 tests
  • Angiomatoid fibrous histiocytoma2 tests
  • Aniridia 128 tests
  • Anisocoria4 tests
  • Anisocytosis4 tests
  • Anisopoikilocytosis4 tests
  • Ankle clonus4 tests
  • Ankle flexion contracture9 tests
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome6 tests
  • Ankyloglossia5 tests
  • Annular epidermolytic ichthyosis5 tests
  • Annular pancreas4 tests
  • Anodontia4 tests
  • Anonychia23 tests
  • Anophthalmia4 tests
  • Anophthalmia-microphthalmia syndrome4 tests
  • Anophthalmia/microphthalmia-esophageal atresia syndrome12 tests
  • Anorexia nervosa, susceptibility to, 14 tests
  • Anosmia2 tests
  • Anterior creases of earlobe6 tests
  • Anterior hypopituitarism12 tests
  • Anterior open-bite malocclusion5 tests
  • Anterior rib cupping1 test
  • Anterior segment dysgenesis 19 tests
  • Anterior segment dysgenesis 39 tests
  • Anterior segment dysgenesis 49 tests
  • Anterior segment dysgenesis 75 tests
  • Anteriorly placed anus1 test
  • Anteverted nares55 tests
  • Antigen in Cartwright blood group system1 test
  • Antley-Bixler syndrome13 tests
  • Anxiety11 tests
  • Aortic aneurysm7 tests
  • Aortic aneurysm, familial thoracic 46 tests
  • Aortic aneurysm, familial thoracic 67 tests
  • Aortic aneurysm, familial thoracic 75 tests
  • Aortic arch aneurysm1 test
  • Aortic root aneurysm1 test
  • Aortic valve disease 18 tests
  • Aortic valve disease 25 tests
  • Apathy6 tests
  • Aplasia cutis congenita7 tests
  • Aplasia cutis congenita over the scalp vertex1 test
  • Aplasia of the epiglottis1 test
  • Aplasia of the middle phalanx of the hand4 tests
  • Aplasia of the ulna9 tests
  • Aplasia/Hypoplasia affecting the eye42 tests
  • Aplasia/Hypoplasia involving the central nervous system6 tests
  • Aplasia/Hypoplasia involving the nose3 tests
  • Aplasia/Hypoplasia of the abdominal wall musculature19 tests
  • Aplasia/Hypoplasia of the cerebellum54 tests
  • Aplasia/Hypoplasia of the corpus callosum38 tests
  • Aplasia/Hypoplasia of the distal phalanges of the toes4 tests
  • Aplasia/Hypoplasia of the earlobes19 tests
  • Aplasia/Hypoplasia of the eyebrow10 tests
  • Aplasia/Hypoplasia of the hallux2 tests
  • Aplasia/Hypoplasia of the iris5 tests
  • Aplasia/Hypoplasia of the lungs17 tests
  • Aplasia/Hypoplasia of the middle phalanx of the 2nd finger2 tests
  • Aplasia/Hypoplasia of the middle phalanx of the 5th finger2 tests
  • Aplasia/Hypoplasia of the nipples3 tests
  • Aplasia/Hypoplasia of the pancreas4 tests
  • Aplasia/Hypoplasia of the radius10 tests
  • Aplasia/Hypoplasia of the skin23 tests
  • Aplasia/Hypoplasia of the thumb11 tests
  • Aplasia/Hypoplasia of the thymus5 tests
  • Aplasia/Hypoplasia of the uvula1 test
  • Aplastic anemia33 tests
  • Aplastic/hypoplastic toenail18 tests
  • Apnea31 tests
  • Apnea, central sleep13 tests
  • Apocrine gland secretion, variation in2 tests
  • Apolipoprotein c-III deficiency4 tests
  • Apparent mineralocorticoid excess4 tests
  • appendicular lean mass relative to body height1 test
  • Apraxia4 tests
  • Arachnodactyly10 tests
  • Arachnoid cyst8 tests
  • Areflexia39 tests
  • Arginase deficiency16 tests
  • Arginine:glycine amidinotransferase deficiency8 tests
  • Argininosuccinate lyase deficiency10 tests
  • Aromatase deficiency10 tests
  • Aromatase excess syndrome10 tests
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma12 tests
  • Arrhythmogenic right ventricular cardiomyopathy8 tests
  • Arrhythmogenic right ventricular dysplasia 111 tests
  • Arrhythmogenic right ventricular dysplasia 1010 tests
  • Arrhythmogenic right ventricular dysplasia 1110 tests
  • Arrhythmogenic right ventricular dysplasia 129 tests
  • Arrhythmogenic right ventricular dysplasia 136 tests
  • Arrhythmogenic right ventricular dysplasia 215 tests
  • Arrhythmogenic right ventricular dysplasia 512 tests
  • Arrhythmogenic right ventricular dysplasia 812 tests
  • Arrhythmogenic right ventricular dysplasia 911 tests
  • Arterial calcification, generalized, of infancy, 19 tests
  • Arterial calcification, generalized, of infancy, 29 tests
  • Arterial thrombosis3 tests
  • Arterial tortuosity syndrome7 tests
  • Arteriovenous malformation5 tests
  • Arthralgia18 tests
  • Arthritis14 tests
  • Arthrogryposis multiplex congenita25 tests
  • Arthrogryposis, distal, type 1A8 tests
  • Arthrogryposis, distal, type 1B4 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 15 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 23 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome4 tests
  • Arthropathy3 tests
  • Arts syndrome16 tests
  • Ascites13 tests
  • Aspartate aminotransferase, serum level of, quantitative trait locus 12 tests
  • Aspartylglucosaminuria11 tests
  • Asperger syndrome, X-linked, susceptibility to, 15 tests
  • Asperger syndrome, X-linked, susceptibility to, 25 tests
  • Aspergillosis, susceptibility to3 tests
  • Asphyxiating thoracic dystrophy 18 tests
  • Asphyxiating thoracic dystrophy 27 tests
  • Asphyxiating thoracic dystrophy 36 tests
  • Asphyxiating thoracic dystrophy 412 tests
  • Asphyxiating thoracic dystrophy 58 tests
  • Aspiration pneumonia2 tests
  • Asplenia5 tests
  • Asthma18 tests
  • Asthma, nasal polyps, and aspirin intolerance3 tests
  • Asthma-related traits, susceptibility to, 12 tests
  • Asthma-related traits, susceptibility to, 22 tests
  • Asthma-related traits, susceptibility to, 52 tests
  • Asthma-related traits, susceptibility to, 72 tests
  • Astigmatism9 tests
  • Asymmetric growth9 tests
  • Asymmetry of the thorax8 tests
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome6 tests
  • Ataxia with oculomotor apraxia type 32 tests
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia12 tests
  • Ataxia-hypogonadism-choroidal dystrophy syndrome7 tests
  • Ataxia-telangiectasia syndrome25 tests
  • Atelectasis9 tests
  • Ateleiotic dwarfism6 tests
  • Atelosteogenesis type I10 tests
  • Atelosteogenesis type II10 tests
  • Atelosteogenesis type III10 tests
  • Athetosis12 tests
  • Atonic seizure6 tests
  • Atransferrinemia2 tests
  • Atresia of the external auditory canal7 tests
  • Atrial arrhythmia2 tests
  • Atrial conduction disease3 tests
  • Atrial fibrillation7 tests
  • Atrial fibrillation, familial, 1018 tests
  • Atrial fibrillation, familial, 117 tests
  • Atrial fibrillation, familial, 1211 tests
  • Atrial fibrillation, familial, 1314 tests
  • Atrial fibrillation, familial, 146 tests
  • Atrial fibrillation, familial, 153 tests
  • Atrial fibrillation, familial, 316 tests
  • Atrial fibrillation, familial, 410 tests
  • Atrial fibrillation, familial, 68 tests
  • Atrial fibrillation, familial, 77 tests
  • Atrial fibrillation, familial, 914 tests
  • Atrial flutter2 tests
  • Atrial septal defect42 tests
  • Atrial septal defect 29 tests
  • Atrial septal defect 38 tests
  • Atrial septal defect 46 tests
  • Atrial septal defect 510 tests
  • Atrial septal defect 64 tests
  • Atrial septal defect 713 tests
  • Atrial septal defect 83 tests
  • Atrial septal defect 99 tests
  • Atrial standstill 17 tests
  • Atrial standstill 28 tests
  • Atrichia with papular lesions3 tests
  • Atrioventricular septal defect5 tests
  • Atrioventricular septal defect 310 tests
  • Atrioventricular septal defect 49 tests
  • Atrioventricular septal defect 59 tests
  • Atrioventricular septal defect, susceptibility to, 24 tests
  • Atrophia bulborum hereditaria11 tests
  • Atrophoderma vermiculatum2 tests
  • Attention deficit hyperactivity disorder13 tests
  • Attention deficit-hyperactivity disorder, susceptibility to, 76 tests
  • Attenuated familial adenomatous polyposis12 tests
  • Attenuation of retinal blood vessels6 tests
  • Atypical Gaucher disease due to saposin C deficiency12 tests
  • Atypical hemolytic-uremic syndrome7 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly5 tests
  • Atypical hemolytic-uremic syndrome with C3 anomaly6 tests
  • Atypical hemolytic-uremic syndrome with I factor anomaly7 tests
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly4 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly7 tests
  • Atypical scarring of skin14 tests
  • Auditory hallucinations9 tests
  • Aural atresia, congenital2 tests
  • Auriculocondylar syndrome2 tests
  • Auriculocondylar syndrome 22 tests
  • Auriculocondylar syndrome 32 tests
  • Autism8 tests
  • Autism spectrum disorder25 tests
  • Autism spectrum disorder due to AUTS2 deficiency4 tests
  • Autism, susceptibility to, 158 tests
  • Autism, susceptibility to, 164 tests
  • Autism, susceptibility to, 174 tests
  • Autism, susceptibility to, 185 tests
  • Autism, susceptibility to, X-linked 15 tests
  • Autism, susceptibility to, X-linked 25 tests
  • Autism, susceptibility to, X-linked 314 tests
  • Autism, susceptibility to, X-linked 55 tests
  • Autistic behavior13 tests
  • Autistic spectrum disorder with isolated skills1 test
  • Autoimmune disease, susceptibility to, 12 tests
  • Autoimmune disease, susceptibility to, 62 tests
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome4 tests
  • Autoimmune hemolytic anemia8 tests
  • Autoimmune lymphoproliferative syndrome type 14 tests
  • Autoimmune lymphoproliferative syndrome type 2A3 tests
  • Autoimmune lymphoproliferative syndrome type 2B4 tests
  • Autoimmune lymphoproliferative syndrome type 48 tests
  • Autoimmune thrombocytopenia10 tests
  • Autoimmune thyroid disease, susceptibility to, 34 tests
  • Autoimmunity13 tests
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation5 tests
  • Autophagic vacuoles3 tests
  • Autosomal dominant Alport syndrome13 tests
  • Autosomal dominant aplasia and myelodysplasia4 tests
  • Autosomal dominant auditory neuropathy 14 tests
  • Autosomal dominant centronuclear myopathy9 tests
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy9 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures12 tests
  • Autosomal dominant congenital benign spinal muscular atrophy11 tests
  • Autosomal dominant distal renal tubular acidosis8 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome16 tests
  • Autosomal dominant hypocalcemia 114 tests
  • Autosomal dominant hypophosphatemic rickets6 tests
  • Autosomal dominant inheritance209 tests
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant keratitis18 tests
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome13 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)7 tests
  • Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency4 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy5 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 18 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 37 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 46 tests
  • Autosomal dominant nonsyndromic hearing loss 15 tests
  • Autosomal dominant nonsyndromic hearing loss 108 tests
  • Autosomal dominant nonsyndromic hearing loss 1113 tests
  • Autosomal dominant nonsyndromic hearing loss 124 tests
  • Autosomal dominant nonsyndromic hearing loss 1313 tests
  • Autosomal dominant nonsyndromic hearing loss 154 tests
  • Autosomal dominant nonsyndromic hearing loss 1712 tests
  • Autosomal dominant nonsyndromic hearing loss 2011 tests
  • Autosomal dominant nonsyndromic hearing loss 224 tests
  • Autosomal dominant nonsyndromic hearing loss 238 tests
  • Autosomal dominant nonsyndromic hearing loss 254 tests
  • Autosomal dominant nonsyndromic hearing loss 284 tests
  • Autosomal dominant nonsyndromic hearing loss 2A4 tests
  • Autosomal dominant nonsyndromic hearing loss 2B5 tests
  • Autosomal dominant nonsyndromic hearing loss 364 tests
  • Autosomal dominant nonsyndromic hearing loss 3A13 tests
  • Autosomal dominant nonsyndromic hearing loss 3B12 tests
  • Autosomal dominant nonsyndromic hearing loss 444 tests
  • Autosomal dominant nonsyndromic hearing loss 482 tests
  • Autosomal dominant nonsyndromic hearing loss 4A4 tests
  • Autosomal dominant nonsyndromic hearing loss 4B4 tests
  • Autosomal dominant nonsyndromic hearing loss 504 tests
  • Autosomal dominant nonsyndromic hearing loss 564 tests
  • Autosomal dominant nonsyndromic hearing loss 616 tests
  • Autosomal dominant nonsyndromic hearing loss 645 tests
  • Autosomal dominant nonsyndromic hearing loss 94 tests
  • Autosomal dominant optic atrophy classic form14 tests
  • Autosomal dominant osteopetrosis 110 tests
  • Autosomal dominant osteopetrosis 25 tests
  • Autosomal dominant Parkinson disease 15 tests
  • Autosomal dominant Parkinson disease 45 tests
  • Autosomal dominant Parkinson disease 84 tests
  • Autosomal dominant pseudohypoaldosteronism type 14 tests
  • Autosomal dominant Robinow syndrome 17 tests
  • Autosomal dominant sensory ataxia 12 tests
  • Autosomal dominant slowed nerve conduction velocity2 tests
  • Autosomal dominant striatal neurodegeneration type 12 tests
  • Autosomal dominant vitreoretinochoroidopathy9 tests
  • Autosomal dominant woolly hair3 tests
  • Autosomal recessive Alport syndrome14 tests
  • Autosomal recessive ataxia, Beauce type9 tests
  • Autosomal recessive axonal neuropathy with neuromyotonia6 tests
  • Autosomal recessive bestrophinopathy9 tests
  • Autosomal recessive congenital ichthyosis 103 tests
  • Autosomal recessive congenital ichthyosis 113 tests
  • Autosomal recessive congenital ichthyosis 25 tests
  • Autosomal recessive congenital ichthyosis 33 tests
  • Autosomal recessive congenital ichthyosis 4A3 tests
  • Autosomal recessive congenital ichthyosis 4B3 tests
  • Autosomal recessive congenital ichthyosis 63 tests
  • Autosomal recessive congenital ichthyosis 83 tests
  • Autosomal recessive cutis laxa type 2B7 tests
  • Autosomal recessive distal renal tubular acidosis4 tests
  • Autosomal recessive distal spinal muscular atrophy 18 tests
  • Autosomal recessive DOPA responsive dystonia13 tests
  • Autosomal recessive early-onset Parkinson disease 615 tests
  • Autosomal recessive early-onset Parkinson disease 73 tests
  • Autosomal recessive hypophosphatemic bone disease6 tests
  • Autosomal recessive Kenny-Caffey syndrome4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A9 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B11 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C9 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D9 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E9 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F14 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G12 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I23 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J19 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K17 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L10 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M28 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N15 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O21 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q5 tests
  • Autosomal recessive lower motor neuron disease with childhood onset6 tests
  • Autosomal recessive multiple pterygium syndrome9 tests
  • Autosomal recessive nonsyndromic hearing loss 1215 tests
  • Autosomal recessive nonsyndromic hearing loss 154 tests
  • Autosomal recessive nonsyndromic hearing loss 18A15 tests
  • Autosomal recessive nonsyndromic hearing loss 1A17 tests
  • Autosomal recessive nonsyndromic hearing loss 1B12 tests
  • Autosomal recessive nonsyndromic hearing loss 213 tests
  • Autosomal recessive nonsyndromic hearing loss 214 tests
  • Autosomal recessive nonsyndromic hearing loss 2318 tests
  • Autosomal recessive nonsyndromic hearing loss 244 tests
  • Autosomal recessive nonsyndromic hearing loss 254 tests
  • Autosomal recessive nonsyndromic hearing loss 284 tests
  • Autosomal recessive nonsyndromic hearing loss 294 tests
  • Autosomal recessive nonsyndromic hearing loss 34 tests
  • Autosomal recessive nonsyndromic hearing loss 304 tests
  • Autosomal recessive nonsyndromic hearing loss 354 tests
  • Autosomal recessive nonsyndromic hearing loss 364 tests
  • Autosomal recessive nonsyndromic hearing loss 374 tests
  • Autosomal recessive nonsyndromic hearing loss 394 tests
  • Autosomal recessive nonsyndromic hearing loss 419 tests
  • Autosomal recessive nonsyndromic hearing loss 424 tests
  • Autosomal recessive nonsyndromic hearing loss 488 tests
  • Autosomal recessive nonsyndromic hearing loss 494 tests
  • Autosomal recessive nonsyndromic hearing loss 5313 tests
  • Autosomal recessive nonsyndromic hearing loss 64 tests
  • Autosomal recessive nonsyndromic hearing loss 614 tests
  • Autosomal recessive nonsyndromic hearing loss 634 tests
  • Autosomal recessive nonsyndromic hearing loss 674 tests
  • Autosomal recessive nonsyndromic hearing loss 74 tests
  • Autosomal recessive nonsyndromic hearing loss 744 tests
  • Autosomal recessive nonsyndromic hearing loss 779 tests
  • Autosomal recessive nonsyndromic hearing loss 794 tests
  • Autosomal recessive nonsyndromic hearing loss 84A4 tests
  • Autosomal recessive nonsyndromic hearing loss 869 tests
  • Autosomal recessive nonsyndromic hearing loss 896 tests
  • Autosomal recessive nonsyndromic hearing loss 94 tests
  • Autosomal recessive nonsyndromic hearing loss 914 tests
  • Autosomal recessive omodysplasia3 tests
  • Autosomal recessive optic atrophy, OPA7 type8 tests
  • Autosomal recessive osteopetrosis 19 tests
  • Autosomal recessive osteopetrosis 24 tests
  • Autosomal recessive osteopetrosis 45 tests
  • Autosomal recessive osteopetrosis 55 tests
  • Autosomal recessive osteopetrosis 62 tests
  • Autosomal recessive osteopetrosis 77 tests
  • Autosomal recessive osteopetrosis 83 tests
  • Autosomal recessive Parkinson disease 1413 tests
  • Autosomal recessive polycystic kidney disease16 tests
  • Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity2 tests
  • Autosomal recessive primary microcephaly2 tests
  • Autosomal recessive proximal renal tubular acidosis7 tests
  • Autosomal recessive pseudohypoaldosteronism type 19 tests
  • Autosomal recessive Robinow syndrome5 tests
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency7 tests
  • Autosomal recessive spinocerebellar ataxia 107 tests
  • Autosomal recessive spinocerebellar ataxia 115 tests
  • Autosomal recessive spinocerebellar ataxia 135 tests
  • Autosomal recessive spinocerebellar ataxia 144 tests
  • Autosomal recessive spinocerebellar ataxia 719 tests
  • Autosomal recessive spondylometaphyseal dysplasia, Megarbane type1 test
  • Autosomal systemic lupus erythematosus type 163 tests
  • Avascular necrosis13 tests
  • Avascular necrosis of femoral head, primary, 120 tests
  • Avellino corneal dystrophy5 tests
  • Axenfeld-Rieger syndrome type 19 tests
  • Axenfeld-Rieger syndrome type 39 tests
  • Axial hypotonia29 tests
  • Axial muscle weakness5 tests
  • Axonal regeneration3 tests
  • Azoospermia4 tests
  • Azorean disease4 tests
  • B-cell lymphoma3 tests
  • B4GALT1-congenital disorder of glycosylation8 tests
  • Babinski sign28 tests
  • Bacteremia, susceptibility to, 13 tests
  • Bacteremia, susceptibility to, 22 tests
  • Bailey-Bloch congenital myopathy3 tests
  • Baller-Gerold syndrome11 tests
  • Bamforth-Lazarus syndrome3 tests
  • Bannayan-Riley-Ruvalcaba syndrome25 tests
  • BAP1-related tumor predisposition syndrome6 tests
  • Baraitser-Winter syndrome13 tests
  • Baraitser-winter syndrome 211 tests
  • Bardet-Biedl syndrome59 tests
  • Barrel-shaped chest9 tests
  • Barrett esophagus4 tests
  • Bartsocas-Papas syndrome2 tests
  • Bartter disease type 13 tests
  • Bartter disease type 23 tests
  • Bartter disease type 35 tests
  • Bartter disease type 4a10 tests
  • Bartter disease type 4B6 tests
  • Basal cell carcinoma8 tests
  • Basal cell carcinoma, susceptibility to, 119 tests
  • Basal ganglia calcification5 tests
  • Basal ganglia calcification, idiopathic, 53 tests
  • Basal laminar drusen9 tests
  • Basilar impression1 test
  • BCHE, fluoride 25 tests
  • Beaded hair1 test
  • Beare-Stevenson cutis gyrata syndrome10 tests
  • Becker muscular dystrophy15 tests
  • Beckwith-Wiedemann syndrome33 tests
  • Behavioral abnormality17 tests
  • Bell-shaped thorax13 tests
  • Benign familial hematuria13 tests
  • Benign hereditary chorea5 tests
  • Benign neoplasm of the central nervous system5 tests
  • Benign recurrent intrahepatic cholestasis type 15 tests
  • Benign recurrent intrahepatic cholestasis type 29 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy24 tests
  • BENTA disease4 tests
  • Benzene toxicity, susceptibility to2 tests
  • Bernard Soulier syndrome14 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant12 tests
  • beta Thalassemia17 tests
  • Beta-D-mannosidosis9 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency3 tests
  • Beta-thalassemia-X-linked thrombocytopenia syndrome9 tests
  • Bethlem myopathy 110 tests
  • Bicornuate uterus12 tests
  • Bicuspid aortic valve4 tests
  • Bietti crystalline corneoretinal dystrophy9 tests
  • Bifid nasal tip1 test
  • Bifid scrotum4 tests
  • Bifid tongue11 tests
  • Bifid uvula12 tests
  • Bifunctional peroxisomal enzyme deficiency13 tests
  • Bilateral choanal atresia/stenosis3 tests
  • Bilateral cryptorchidism1 test
  • Bilateral frontoparietal polymicrogyria11 tests
  • Bilateral microtia-deafness-cleft palate syndrome2 tests
  • Bilateral sensorineural hearing impairment6 tests
  • Bilateral squint1 test
  • Bilateral undescended testicles1 test
  • Bile acid malabsorption, primary3 tests
  • Bile duct proliferation5 tests
  • Biliary cirrhosis3 tests
  • Biliary tract abnormality13 tests
  • Biliary tract neoplasm3 tests
  • Bilirubin, serum level of, quantitative trait locus 110 tests
  • Bimanual synkinesia1 test
  • Biotin-responsive basal ganglia disease12 tests
  • Biotinidase deficiency20 tests
  • Birbeck granule deficiency2 tests
  • Birk-Barel syndrome3 tests
  • Bladder exstrophy-epispadias-cloacal extrophy complex4 tests
  • Blau syndrome5 tests
  • Bleeding diathesis due to thromboxane synthesis deficiency4 tests
  • Bleeding disorder platelet type macrothrombocytopenia4 tests
  • Blepharophimosis23 tests
  • Blepharophimosis - intellectual disability syndrome, MKB type14 tests
  • Blepharophimosis - intellectual disability syndrome, SBBYS type8 tests
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome7 tests
  • BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I1 test
  • Blepharospasm12 tests
  • Blindness5 tests
  • Bloom syndrome19 tests
  • Blue color blindness2 tests
  • Blue sclerae22 tests
  • BNAR syndrome8 tests
  • Body mass index quantitative trait locus 102 tests
  • Body mass index quantitative trait locus 112 tests
  • Body mass index quantitative trait locus 47 tests
  • Body mass index quantitative trait locus 92 tests
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency4 tests
  • Bohring-Opitz syndrome4 tests
  • Bombay phenotype2 tests
  • Bone cyst5 tests
  • Bone fragility with contractures, arterial rupture, and deafness2 tests
  • Bone marrow hypocellularity16 tests
  • Bone mineral density quantitative trait locus 110 tests
  • Bone osteosarcoma21 tests
  • Bone Paget disease9 tests
  • Bone pain12 tests
  • Bone spicule pigmentation of the retina1 test
  • Boomerang dysplasia10 tests
  • Borjeson-Forssman-Lehmann syndrome9 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome7 tests
  • Bothnia retinal dystrophy8 tests
  • Bowel incontinence6 tests
  • Bowen-Conradi syndrome3 tests
  • Bowing of the legs5 tests
  • Bowing of the long bones12 tests
  • Brachycephaly38 tests
  • Brachydactyly70 tests
  • Brachydactyly type A15 tests
  • Brachydactyly type A1C4 tests
  • Brachydactyly type A27 tests
  • Brachydactyly type B15 tests
  • Brachydactyly type B24 tests
  • Brachydactyly type C4 tests
  • Brachydactyly type D3 tests
  • Brachydactyly type E13 tests
  • Brachydactyly type E23 tests
  • Brachydactyly-elbow wrist dysplasia syndrome4 tests
  • Brachydactyly-syndactyly syndrome3 tests
  • Brachyolmia-amelogenesis imperfecta syndrome3 tests
  • Brachyrachia (short spine dysplasia)11 tests
  • Bradycardia10 tests
  • Bradykinesia6 tests
  • Bradyopsia5 tests
  • Brain atrophy18 tests
  • Brain malformation1 test
  • Brain small vessel disease 1 with or without ocular anomalies16 tests
  • Brain-lung-thyroid syndrome5 tests
  • Brainstem dysplasia8 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency5 tests
  • Branchiooculofacial syndrome7 tests
  • Branchiootic syndrome 110 tests
  • Branchiootic syndrome 38 tests
  • Branchiootorenal syndrome 112 tests
  • Branchiootorenal syndrome 28 tests
  • Breast aplasia10 tests
  • Breast cancer, early-onset27 tests
  • Breast carcinoma6 tests
  • Breast hypoplasia2 tests
  • Breast neoplasm25 tests
  • Breast-ovarian cancer, familial, susceptibility to, 119 tests
  • Breast-ovarian cancer, familial, susceptibility to, 223 tests
  • Breast-ovarian cancer, familial, susceptibility to, 312 tests
  • Breast-ovarian cancer, familial, susceptibility to, 49 tests
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Breech presentation3 tests
  • Brittle cornea syndrome 16 tests
  • Brittle cornea syndrome 26 tests
  • Brittle hair10 tests
  • Broad face4 tests
  • Broad femoral neck2 tests
  • Broad foot2 tests
  • Broad forehead26 tests
  • Broad hallux3 tests
  • Broad nasal tip19 tests
  • Broad neck6 tests
  • Broad phalanx1 test
  • Broad philtrum4 tests
  • Broad skull1 test
  • Broad thumb8 tests
  • Broad-based gait11 tests
  • Brody myopathy6 tests
  • Bronchiectasis with or without elevated sweat chloride 147 tests
  • Bronchiectasis with or without elevated sweat chloride 26 tests
  • Bronchiectasis with or without elevated sweat chloride 37 tests
  • Brooke-Spiegler syndrome6 tests
  • Bruck syndrome 25 tests
  • Brugada syndrome13 tests
  • Brugada syndrome 118 tests
  • Brugada syndrome 313 tests
  • Brugada syndrome 49 tests
  • Brugada syndrome 514 tests
  • Brugada syndrome 69 tests
  • Brugada syndrome 79 tests
  • Brugada syndrome 810 tests
  • Bruising susceptibility13 tests
  • Brunner syndrome8 tests
  • Brushfield spots4 tests
  • Budd-Chiari syndrome11 tests
  • Bulbar palsy15 tests
  • Bulbous nose6 tests
  • Bulimia nervosa, susceptibility to, 17 tests
  • Bullous ichthyosiform erythroderma5 tests
  • Burkitt lymphoma2 tests
  • Buruli ulcer, susceptibility to2 tests
  • Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type5 tests
  • C syndrome3 tests
  • C1 inhibitor deficiency3 tests
  • C1Q deficiency5 tests
  • C3HEX, ability to smell1 test
  • CADDS1 test
  • Cafe-au-lait spot12 tests
  • Café-au-lait macules with pulmonary stenosis23 tests
  • Calcaneovalgus deformity3 tests
  • Calcification of the auricular cartilage1 test
  • Calcinosis6 tests
  • Calvarial skull defect4 tests
  • Camptodactyly23 tests
  • Camptodactyly of finger25 tests
  • Camptodactyly of toe4 tests
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3 tests
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome17 tests
  • Camptomelic dysplasia9 tests
  • Cancer of cervix17 tests
  • Candidiasis, familial, 63 tests
  • Candidiasis, familial, 83 tests
  • Capillary infantile hemangioma5 tests
  • Capillary malformation-arteriovenous malformation 19 tests
  • CARASIL syndrome6 tests
  • Carcinoid tumor of intestine9 tests
  • Carcinoma of colon37 tests
  • Carcinoma of pancreas40 tests
  • Cardiac arrest10 tests
  • Cardiac arrhythmia51 tests
  • Cardiac arrhythmia, ankyrin-B-related10 tests
  • Cardiac valvular dysplasia, X-linked24 tests
  • Cardio-facio-cutaneous syndrome20 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 111 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 210 tests
  • Cardiofaciocutaneous syndrome 213 tests
  • Cardiofaciocutaneous syndrome 311 tests
  • Cardiofaciocutaneous syndrome 49 tests
  • Cardiomegaly1 test
  • Cardiomyopathy34 tests
  • Cardiomyopathy, familial restrictive, 111 tests
  • Cardiomyopathy, familial restrictive, 311 tests
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome6 tests
  • Carious teeth23 tests
  • Carney complex - trismus - pseudocamptodactyly syndrome2 tests
  • Carney complex, type 112 tests
  • Carney-Stratakis syndrome12 tests
  • Carnitine acylcarnitine translocase deficiency16 tests
  • Carnitine palmitoyl transferase 1A deficiency16 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form28 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form28 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form28 tests
  • Carotid intimal medial thickness 15 tests
  • Carpal tunnel syndrome12 tests
  • Carpenter syndrome9 tests
  • Cataplexy and narcolepsy3 tests
  • Cataract96 tests
  • Cataract 1 multiple types4 tests
  • Cataract 10 multiple types4 tests
  • Cataract 11 multiple types7 tests
  • Cataract 12 multiple types4 tests
  • Cataract 14 multiple types4 tests
  • Cataract 15 multiple types4 tests
  • Cataract 16 multiple types12 tests
  • Cataract 17 multiple types4 tests
  • Cataract 184 tests
  • Cataract 19 multiple types4 tests
  • Cataract 2, multiple types4 tests
  • Cataract 20 multiple types4 tests
  • Cataract 21 multiple types3 tests
  • Cataract 22 multiple types4 tests
  • Cataract 235 tests
  • Cataract 3 multiple types4 tests
  • Cataract 304 tests
  • Cataract 31 multiple types4 tests
  • Cataract 334 tests
  • Cataract 364 tests
  • Cataract 388 tests
  • Cataract 39 multiple types4 tests
  • Cataract 408 tests
  • Cataract 4116 tests
  • Cataract 5 multiple types4 tests
  • Cataract 6 multiple types4 tests
  • Cataract 9 multiple types4 tests
  • Catecholaminergic polymorphic ventricular tachycardia18 tests
  • Catecholaminergic polymorphic ventricular tachycardia 29 tests
  • Catecholaminergic polymorphic ventricular tachycardia 46 tests
  • Catecholaminergic polymorphic ventricular tachycardia 58 tests
  • Catel-Manzke syndrome2 tests
  • Caudal duplication2 tests
  • Cavernous hemangioma11 tests
  • Cavum septum pellucidum3 tests
  • Cayman type cerebellar ataxia4 tests
  • CBL-related disorder8 tests
  • CEDNIK syndrome6 tests
  • Celiac disease, susceptibility to, 33 tests
  • Celiac disease, susceptibility to, 42 tests
  • Cellular immunodeficiency15 tests
  • Cenani-Lenz syndactyly syndrome5 tests
  • Centra precocious puberty 17 tests
  • Central adrenal insufficiency4 tests
  • Central core myopathy11 tests
  • Central hypothyroidism4 tests
  • Central hypotonia4 tests
  • Centrally nucleated skeletal muscle fibers6 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 25 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 34 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 44 tests
  • Cerebellar ataxia-hypogonadism syndrome1 test
  • Cerebellar atrophy65 tests
  • Cerebellar cyst6 tests
  • Cerebellar dysplasia6 tests
  • Cerebellar vermis atrophy11 tests
  • Cerebellar vermis hypoplasia22 tests
  • Cerebellar-facial-dental syndrome1 test
  • Cerebral amyloid angiopathy, APP-related4 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 113 tests
  • Cerebral arteriovenous malformation2 tests
  • Cerebral atrophy51 tests
  • Cerebral calcification23 tests
  • Cerebral cavernous malformation3 tests
  • Cerebral cavernous malformation 23 tests
  • Cerebral cavernous malformation 33 tests
  • Cerebral cortical atrophy55 tests
  • Cerebral folate transport deficiency16 tests
  • Cerebral hypomyelination10 tests
  • Cerebral ischemia5 tests
  • Cerebral palsy2 tests
  • Cerebral palsy, spastic quadriplegic, 23 tests
  • Cerebral visual impairment15 tests
  • Cerebrooculofacioskeletal syndrome 115 tests
  • Cerebrooculofacioskeletal syndrome 211 tests
  • Cerebrooculofacioskeletal syndrome 46 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 19 tests
  • Cernunnos-XLF deficiency7 tests
  • Ceroid lipofuscinosis, neuronal, 6A17 tests
  • CFHR5 deficiency5 tests
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive12 tests
  • Char syndrome4 tests
  • Charcot-Marie-Tooth disease10 tests
  • Charcot-Marie-Tooth disease axonal type 2C11 tests
  • Charcot-Marie-Tooth disease axonal type 2F7 tests
  • Charcot-Marie-Tooth disease axonal type 2K6 tests
  • Charcot-Marie-Tooth disease axonal type 2L7 tests
  • Charcot-Marie-Tooth disease axonal type 2N7 tests
  • Charcot-Marie-Tooth disease axonal type 2O12 tests
  • Charcot-Marie-Tooth disease axonal type 2P5 tests
  • Charcot-Marie-Tooth disease dominant intermediate B8 tests
  • Charcot-Marie-Tooth disease dominant intermediate C5 tests
  • Charcot-Marie-Tooth disease dominant intermediate D7 tests
  • Charcot-Marie-Tooth disease dominant intermediate E9 tests
  • Charcot-Marie-Tooth disease recessive intermediate A6 tests
  • Charcot-Marie-Tooth disease recessive intermediate B6 tests
  • Charcot-Marie-Tooth disease recessive intermediate C6 tests
  • Charcot-Marie-Tooth disease type 1B7 tests
  • Charcot-Marie-Tooth disease type 1C5 tests
  • Charcot-Marie-Tooth disease type 1D7 tests
  • Charcot-Marie-Tooth disease type 1E8 tests
  • Charcot-Marie-Tooth disease type 1F5 tests
  • Charcot-Marie-Tooth disease type 2A17 tests
  • Charcot-Marie-Tooth disease type 2A211 tests
  • Charcot-Marie-Tooth disease type 2B5 tests
  • Charcot-Marie-Tooth disease type 2B124 tests
  • Charcot-Marie-Tooth disease type 2B24 tests
  • Charcot-Marie-Tooth disease type 2D9 tests
  • Charcot-Marie-Tooth disease type 2E5 tests
  • Charcot-Marie-Tooth disease type 2I7 tests
  • Charcot-Marie-Tooth disease type 2J7 tests
  • Charcot-Marie-Tooth disease type 4A6 tests
  • Charcot-Marie-Tooth disease type 4B15 tests
  • Charcot-Marie-Tooth disease type 4B27 tests
  • Charcot-Marie-Tooth disease type 4C5 tests
  • Charcot-Marie-Tooth disease type 4D9 tests
  • Charcot-Marie-Tooth disease type 4E8 tests
  • Charcot-Marie-Tooth disease type 4F6 tests
  • Charcot-Marie-Tooth disease type 4G8 tests
  • Charcot-Marie-Tooth disease type 4H5 tests
  • Charcot-Marie-Tooth disease type 4J6 tests
  • Charcot-Marie-Tooth disease X-linked dominant 19 tests
  • Charcot-Marie-Tooth disease X-linked recessive 48 tests
  • Charcot-Marie-Tooth disease X-linked recessive 516 tests
  • Charcot-Marie-Tooth disease, axonal type5 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive6 tests
  • Charcot-Marie-Tooth disease, type IA8 tests
  • CHARGE association21 tests
  • Charlevoix-Saguenay spastic ataxia11 tests
  • Cheilitis2 tests
  • Chest pain11 tests
  • Chiari malformation type II10 tests
  • Chilblain lupus 19 tests
  • Chilblain lupus 214 tests
  • Child syndrome7 tests
  • Childhood apraxia of speech4 tests
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency5 tests
  • Childhood hypophosphatasia12 tests
  • Childhood onset GLUT1 deficiency syndrome 217 tests
  • Childhood-Onset Schizophrenia3 tests
  • Childhood-onset truncal obesity8 tests
  • CHIME syndrome6 tests
  • Chitotriosidase deficiency2 tests
  • Choanal atresia11 tests
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome3 tests
  • Cholestanol storage disease15 tests
  • Cholestasis, intrahepatic, of pregnancy, 15 tests
  • Cholestasis, intrahepatic, of pregnancy, 35 tests
  • Chondrocalcinosis7 tests
  • Chondrocalcinosis 28 tests
  • Chondrodysplasia Blomstrand type5 tests
  • Chondrodysplasia punctata 2 X-linked dominant8 tests
  • Chondrodysplasia with joint dislocations, gPAPP type3 tests
  • Chondrosarcoma7 tests
  • Chorea14 tests
  • Chorea-acanthocytosis10 tests
  • Choreoathetosis20 tests
  • Chorioretinal atrophy5 tests
  • Chorioretinal coloboma21 tests
  • Chorioretinal dysplasia5 tests
  • Chorioretinal dystrophy1 test
  • Choroid plexus carcinoma27 tests
  • Choroid plexus papilloma8 tests
  • Choroidal dystrophy, central areolar 27 tests
  • Choroideremia12 tests
  • Christianson syndrome13 tests
  • Chromosome 2p16.3 deletion syndrome8 tests
  • Chromosome 2q32-q33 deletion syndrome6 tests
  • Chromosome 2q37 deletion syndrome5 tests
  • Chronic bronchitis14 tests
  • Chronic calcifying pancreatitis1 test
  • Chronic diarrhea9 tests
  • Chronic infantile neurological, cutaneous and articular syndrome8 tests
  • Chronic kidney disease11 tests
  • Chronic lung disease8 tests
  • Chronic mucocutaneous candidiasis3 tests
  • Chronic myelogenous leukemia, BCR-ABL1 positive3 tests
  • Chronic obstructive pulmonary disease15 tests
  • Chronic progressive multiple sclerosis2 tests
  • Chudley-McCullough syndrome6 tests
  • Chuvash polycythemia12 tests
  • Chylomicron retention disease3 tests
  • Chédiak-Higashi syndrome14 tests
  • CIDEC-related familial partial lipodystrophy3 tests
  • Cirrhosis of liver23 tests
  • Cirrhosis, cryptogenic2 tests
  • Cirrhosis, noncryptogenic, susceptibility to2 tests
  • Citrullinemia type I12 tests
  • Citrullinemia type II11 tests
  • CK syndrome7 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency12 tests
  • Classic dopamine transporter deficiency syndrome7 tests
  • Classic Hodgkin lymphoma2 tests
  • Classic homocystinuria14 tests
  • Classical primary microcephaly1 test
  • Cleft at the superior portion of the pinna2 tests
  • Cleft lower alveolar ridge1 test
  • Cleft mandible1 test
  • Cleft of chin3 tests
  • Cleft palate74 tests
  • Cleft palate with or without ankyloglossia, X-linked3 tests
  • Cleft upper lip27 tests
  • Cleidocranial dysostosis5 tests
  • Clinodactyly32 tests
  • Clinodactyly of the 5th finger46 tests
  • Clitoral hypoplasia2 tests
  • Clonus13 tests
  • Cloverleaf skull3 tests
  • CLOVES syndrome7 tests
  • Clubbing5 tests
  • Clubbing of fingers5 tests
  • Clubbing of toes1 test
  • Clubfoot53 tests
  • Clumsiness9 tests
  • CNS demyelination8 tests
  • CNS hypomyelination16 tests
  • COACH syndrome 126 tests
  • Coarctation of aorta17 tests
  • Coarse facial features25 tests
  • Coarse hair18 tests
  • Coarse metaphyseal trabecularization13 tests
  • Cobalamin C disease19 tests
  • Cobblestone lissencephaly without muscular or ocular involvement2 tests
  • Cockayne syndrome type 110 tests
  • Cockayne syndrome type 215 tests
  • Cocoon syndrome2 tests
  • CODAS syndrome1 test
  • Coenzyme Q10 deficiency6 tests
  • Coenzyme Q10 deficiency, primary, 114 tests
  • Coenzyme Q10 deficiency, primary, 314 tests
  • Coffin-Lowry syndrome6 tests
  • Coffin-Siris syndrome 14 tests
  • COG1 congenital disorder of glycosylation4 tests
  • COG4-congenital disorder of glycosylation5 tests
  • COG5-congenital disorder of glycosylation7 tests
  • COG6-ongenital disorder of glycosylation6 tests
  • COG7 congenital disorder of glycosylation8 tests
  • COG8-congenital disorder of glycosylation9 tests
  • Cognitive impairment153 tests
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2 tests
  • Cognitive impairment with or without cerebellar ataxia10 tests
  • Cohen syndrome16 tests
  • Colchicine resistance2 tests
  • Cold-induced sweating syndrome2 tests
  • Cold-induced sweating syndrome 12 tests
  • Cole-Carpenter syndrome 13 tests
  • Colitis14 tests
  • Coloboma of optic nerve22 tests
  • Coloboma, ocular, autosomal recessive4 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome5 tests
  • Colon serrated polyposis1 test
  • Colonic neoplasm13 tests
  • Color vision defect23 tests
  • Colorectal cancer11 tests
  • Colorectal cancer, hereditary nonpolyposis, type 69 tests
  • Colorectal cancer, hereditary nonpolyposis, type 74 tests
  • Colorectal cancer, susceptibility to, 14 tests
  • Colorectal cancer, susceptibility to, 108 tests
  • Colorectal cancer, susceptibility to, 222 tests
  • Colorectal cancer, susceptibility to, 32 tests
  • Combined deficiency of sialidase AND beta galactosidase10 tests
  • Combined immunodeficiency5 tests
  • Combined immunodeficiency due to CD3gamma deficiency4 tests
  • Combined immunodeficiency due to DOCK8 deficiency7 tests
  • Combined immunodeficiency due to ORAI1 deficiency5 tests
  • Combined immunodeficiency due to OX40 deficiency2 tests
  • Combined immunodeficiency due to partial RAG1 deficiency10 tests
  • Combined immunodeficiency due to STIM1 deficiency8 tests
  • Combined immunodeficiency due to STK4 deficiency4 tests
  • Combined immunodeficiency due to ZAP70 deficiency7 tests
  • Combined immunodeficiency with skin granulomas11 tests
  • Combined immunodeficiency, X-linked8 tests
  • Combined malonic and methylmalonic acidemia10 tests
  • Combined molybdoflavoprotein enzyme deficiency7 tests
  • Combined oxidative phosphorylation defect type 147 tests
  • Combined oxidative phosphorylation defect type 156 tests
  • Combined oxidative phosphorylation defect type 176 tests
  • Combined oxidative phosphorylation defect type 25 tests
  • Combined oxidative phosphorylation defect type 46 tests
  • Combined oxidative phosphorylation defect type 711 tests
  • Combined oxidative phosphorylation defect type 84 tests
  • Combined oxidative phosphorylation defect type 95 tests
  • Combined oxidative phosphorylation deficiency16 tests
  • Common variable agammaglobulinemia8 tests
  • Communicating hydrocephalus5 tests
  • Complement component 2 deficiency2 tests
  • Complement component 3 deficiency6 tests
  • Complement component 5 deficiency4 tests
  • Complement component 6 deficiency4 tests
  • Complement component 7 deficiency4 tests
  • Complement component 9 deficiency5 tests
  • Complement component C1r/C1s deficiency6 tests
  • Complement component C1s deficiency6 tests
  • Complement factor b deficiency5 tests
  • Complete trisomy 21 syndrome9 tests
  • Complex cortical dysplasia with other brain malformations6 tests
  • Complex cortical dysplasia with other brain malformations 18 tests
  • Complex cortical dysplasia with other brain malformations 710 tests
  • Compton-North congenital myopathy4 tests
  • Concave nasal ridge9 tests
  • Conduction disorder of the heart3 tests
  • Conductive hearing impairment36 tests
  • Cone dystrophy7 tests
  • Cone dystrophy 35 tests
  • Cone dystrophy 46 tests
  • Cone dystrophy with supernormal rod response6 tests
  • Cone-rod dystrophy29 tests
  • Cone-rod dystrophy 106 tests
  • Cone-rod dystrophy 116 tests
  • Cone-rod dystrophy 127 tests
  • Cone-rod dystrophy 137 tests
  • Cone-rod dystrophy 156 tests
  • Cone-rod dystrophy 166 tests
  • Cone-rod dystrophy 185 tests
  • Cone-rod dystrophy 27 tests
  • Cone-rod dystrophy 38 tests
  • Cone-rod dystrophy 56 tests
  • Cone-rod dystrophy 67 tests
  • Cone-rod dystrophy 75 tests
  • Cone-rod dystrophy 95 tests
  • Cone-rod synaptic disorder, congenital nonprogressive5 tests
  • Cone-shaped epiphyses of the phalanges of the hand6 tests
  • Cone-shaped epiphysis17 tests
  • Congenital absence of salivary gland3 tests
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency5 tests
  • Congenital adrenal hypoplasia, X-linked11 tests
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency5 tests
  • Congenital amegakaryocytic thrombocytopenia16 tests
  • Congenital aniridia3 tests
  • Congenital anomalies of kidney and urinary tract 25 tests
  • Congenital anomaly of face1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation25 tests
  • Congenital bile acid synthesis defect 14 tests
  • Congenital bile acid synthesis defect 24 tests
  • Congenital bile acid synthesis defect 37 tests
  • Congenital bile acid synthesis defect 410 tests
  • Congenital brain dysgenesis due to glutamine synthetase deficiency7 tests
  • Congenital cataract-hearing loss-severe developmental delay syndrome7 tests
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome6 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome5 tests
  • Congenital central hypoventilation26 tests
  • Congenital cerebellar hypoplasia40 tests
  • Congenital contractural arachnodactyly8 tests
  • Congenital contracture4 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay4 tests
  • Congenital defect of folate absorption11 tests
  • Congenital diaphragmatic hernia12 tests
  • Congenital diarrhea 5 with tufting enteropathy21 tests
  • Congenital diarrhea 63 tests
  • Congenital diarrhea 7 with exudative enteropathy2 tests
  • Congenital disorder of glycosylation9 tests
  • Congenital disorder of glycosylation type 1E11 tests
  • Congenital disorder of glycosylation type I1 test
  • Congenital disorder of glycosylation type Ir6 tests
  • Congenital dyserythropoietic anemia type 42 tests
  • Congenital dyserythropoietic anemia type type 1B3 tests
  • Congenital dyserythropoietic anemia, type I2 tests
  • Congenital dyserythropoietic anemia, type II4 tests
  • Congenital fibrosis of extraocular muscles1 test
  • Congenital fibrosis of extraocular muscles type 14 tests
  • Congenital generalized lipodystrophy1 test
  • Congenital generalized lipodystrophy type 16 tests
  • Congenital generalized lipodystrophy type 216 tests
  • Congenital generalized lipodystrophy type 39 tests
  • Congenital glucose-galactose malabsorption3 tests
  • Congenital heart defects, multiple types, 24 tests
  • Congenital heart defects, multiple types, 65 tests
  • Congenital heart disease1 test
  • Congenital hepatic fibrosis9 tests
  • Congenital hereditary endothelial dystrophy of cornea10 tests
  • Congenital hip dislocation16 tests
  • Congenital hyperammonemia, type I12 tests
  • Congenital hypotrichosis with juvenile macular dystrophy6 tests
  • Congenital ichthyosiform erythroderma3 tests
  • Congenital ichthyosis of skin9 tests
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome12 tests
  • Congenital isolated adrenocorticotropic hormone deficiency2 tests
  • Congenital lactase deficiency3 tests
  • Congenital lactic acidosis5 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type13 tests
  • Congenital laryngomalacia14 tests
  • Congenital lipoid adrenal hyperplasia due to STAR deficency9 tests
  • Congenital malabsorptive diarrhea 45 tests
  • Congenital megaureter1 test
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome9 tests
  • Congenital microvillous atrophy3 tests
  • Congenital multicore myopathy with external ophthalmoplegia11 tests
  • Congenital muscular dystrophy19 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency6 tests
  • Congenital muscular dystrophy due to LMNA mutation24 tests
  • Congenital muscular hypertrophy-cerebral syndrome10 tests
  • Congenital muscular torticollis3 tests
  • Congenital myasthenic syndrome 105 tests
  • Congenital myasthenic syndrome 124 tests
  • Congenital myasthenic syndrome 1310 tests
  • Congenital myasthenic syndrome 153 tests
  • Congenital myasthenic syndrome 1617 tests
  • Congenital myasthenic syndrome 4C14 tests
  • Congenital myasthenic syndrome 55 tests
  • Congenital myasthenic syndrome 84 tests
  • Congenital myopathy with fiber type disproportion28 tests
  • Congenital myotonia, autosomal dominant form7 tests
  • Congenital myotonia, autosomal recessive form7 tests
  • Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome4 tests
  • Congenital nonbullous ichthyosiform erythroderma2 tests
  • Congenital nongoitrous hypothryoidism 63 tests
  • Congenital ocular coloboma19 tests
  • Congenital omphalocele14 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency5 tests
  • Congenital pontocerebellar hypoplasia type 112 tests
  • Congenital primary aphakia6 tests
  • Congenital prothrombin deficiency7 tests
  • Congenital secretory diarrhea, chloride type7 tests
  • Congenital secretory sodium diarrhea 33 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers5 tests
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome8 tests
  • Congenital stationary night blindness7 tests
  • Congenital stationary night blindness 1B6 tests
  • Congenital stationary night blindness 1C5 tests
  • Congenital stationary night blindness 1D4 tests
  • Congenital stationary night blindness 1E5 tests
  • Congenital stationary night blindness 2A7 tests
  • Congenital stationary night blindness autosomal dominant 18 tests
  • Congenital stationary night blindness autosomal dominant 26 tests
  • Congenital stationary night blindness autosomal dominant 35 tests
  • Congenital stromal corneal dystrophy5 tests
  • Congenital vertical talus11 tests
  • Congenital visual impairment2 tests
  • Congestive heart failure13 tests
  • Congestive heart failure and beta-blocker response, modifier of2 tests
  • Conjunctival hamartoma1 test
  • Conjunctival telangiectasia4 tests
  • Conjunctival whitish salt-like deposits6 tests
  • Conjunctivitis6 tests
  • Conotruncal heart malformations25 tests
  • Constipation24 tests
  • Constitutional megaloblastic anemia with severe neurologic disease9 tests
  • Constriction of peripheral visual field8 tests
  • Convex nasal ridge16 tests
  • Cornea plana 24 tests
  • Corneal dystrophy5 tests
  • Corneal dystrophy, Fuchs endothelial, 14 tests
  • Corneal dystrophy, Fuchs endothelial, 410 tests
  • Corneal dystrophy, Fuchs endothelial, 64 tests
  • Corneal dystrophy, lattice type 3A5 tests
  • Corneal dystrophy, Meesmann, 15 tests
  • Corneal dystrophy-perceptive deafness syndrome10 tests
  • Corneal erosion3 tests
  • Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome4 tests
  • Corneal opacity13 tests
  • Cornelia de Lange syndrome 111 tests
  • Cornelia de Lange syndrome 36 tests
  • Cornelia de Lange syndrome 43 tests
  • Coronal cleft vertebrae1 test
  • Coronal craniosynostosis5 tests
  • Coronary artery disease, autosomal dominant 23 tests
  • Coronary artery disease, autosomal dominant, 12 tests
  • Coronary artery disorder4 tests
  • Coronary artery spasm2 tests
  • Coronary heart disease, susceptibility to, 13 tests
  • Coronary heart disease, susceptibility to, 52 tests
  • Coronary heart disease, susceptibility to, 63 tests
  • Coronary heart disease, susceptibility to, 74 tests
  • Corpus callosum agenesis-abnormal genitalia syndrome17 tests
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome6 tests
  • Corpus callosum, agenesis of22 tests
  • Cortical dysplasia13 tests
  • Cortical dysplasia-focal epilepsy syndrome8 tests
  • Cortical myoclonus6 tests
  • Corticosteroid-binding globulin deficiency3 tests
  • Corticosterone 18-monooxygenase deficiency8 tests
  • Corticosterone methyloxidase type 2 deficiency8 tests
  • Cortisone reductase deficiency3 tests
  • Cortisone reductase deficiency 22 tests
  • Costello syndrome19 tests
  • Cough16 tests
  • COVID-194 tests
  • Cowden syndrome31 tests
  • Cowden syndrome 39 tests
  • Cowden syndrome 57 tests
  • Cowden syndrome 65 tests
  • Coxa vara6 tests
  • Coxopodopatellar syndrome2 tests
  • Cranial asymmetry8 tests
  • Cranial nerve paralysis24 tests
  • Craniodiaphyseal dysplasia, autosomal dominant4 tests
  • Cranioectodermal dysplasia2 tests
  • Cranioectodermal dysplasia 16 tests
  • Cranioectodermal dysplasia 27 tests
  • Cranioectodermal dysplasia 34 tests
  • Cranioectodermal dysplasia 48 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome4 tests
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 14 tests
  • Craniofacial dysplasia - osteopenia syndrome4 tests
  • Craniofacial-deafness-hand syndrome7 tests
  • Craniofrontonasal syndrome5 tests
  • Craniolenticulosutural dysplasia2 tests
  • Craniometaphyseal dysplasia, autosomal dominant8 tests
  • Craniometaphyseal dysplasia, autosomal recessive10 tests
  • Craniosynostosis 23 tests
  • Craniosynostosis 43 tests
  • Craniosynostosis 5, susceptibility to5 tests
  • Craniosynostosis and dental anomalies3 tests
  • Creatine transporter deficiency13 tests
  • Crigler-Najjar syndrome18 tests
  • Crigler-Najjar syndrome, type II10 tests
  • Crouzon syndrome10 tests
  • Crouzon syndrome-acanthosis nigricans syndrome17 tests
  • Cryptorchidism91 tests
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome4 tests
  • Cubitus valgus5 tests
  • Cupped ear4 tests
  • Cupped ribs2 tests
  • Curly hair15 tests
  • Currarino triad2 tests
  • Curry-Hall syndrome12 tests
  • Curvilinear intracellular accumulation of autofluorescent lipopigment storage material9 tests
  • Cushing syndrome13 tests
  • Cutaneous amyloidosis2 tests
  • Cutaneous anergy3 tests
  • Cutaneous finger syndactyly8 tests
  • Cutaneous photosensitivity3 tests
  • Cutaneous porphyria5 tests
  • Cutis laxa5 tests
  • Cutis laxa with osteodystrophy11 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies5 tests
  • Cutis laxa, autosomal dominant 111 tests
  • Cutis laxa, autosomal dominant 26 tests
  • Cutis laxa, autosomal recessive, type 1A6 tests
  • Cutis laxa, autosomal recessive, type 1B7 tests
  • Cutis laxa, X-linked11 tests
  • Cutis marmorata7 tests
  • Cyclical neutropenia6 tests
  • CYP2C19-related poor drug metabolism2 tests
  • Cystathioninuria3 tests
  • Cystic fibrosis32 tests
  • Cystic hygroma27 tests
  • Cystic leukoencephalopathy without megalencephaly3 tests
  • Cystic renal dysplasia1 test
  • Cystinuria8 tests
  • Cytochrome C oxidase-negative muscle fibers6 tests
  • Cytochrome-c oxidase deficiency disease17 tests
  • Czech dysplasia, metatarsal type20 tests
  • D-2-hydroxyglutaric aciduria 15 tests
  • D-2-hydroxyglutaric aciduria 25 tests
  • D-Glyceric aciduria4 tests
  • Dalmatian hypouricemia2 tests
  • Dandy-Walker syndrome29 tests
  • Danon disease16 tests
  • De Lange syndrome3 tests
  • DE SANCTIS-CACCHIONE SYNDROME15 tests
  • Deafness dystonia syndrome12 tests
  • Deafness with labyrinthine aplasia, microtia, and microdontia6 tests
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 16 tests
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome10 tests
  • Deafness-infertility syndrome3 tests
  • Deafness-intellectual disability, Martin-Probst type syndrome3 tests
  • Deafness-lymphedema-leukemia syndrome8 tests
  • Death in childhood5 tests
  • Death in infancy13 tests
  • Decreased body weight28 tests
  • Decreased circulating antibody level30 tests
  • Decreased circulating IgG level6 tests
  • Decreased circulating IgG2 level4 tests
  • Decreased circulating total IgM6 tests
  • Decreased corneal thickness14 tests
  • Decreased fertility9 tests
  • Decreased fetal movement11 tests
  • Decreased HDL cholesterol concentration1 test
  • Decreased levels of alpha-fetoprotein2 tests
  • Decreased light- and dark-adapted electroretinogram amplitude1 test
  • Decreased liver function12 tests
  • Decreased lymphocyte apoptosis8 tests
  • Decreased motor nerve conduction velocity6 tests
  • Decreased muscle mass12 tests
  • Decreased number of peripheral myelinated nerve fibers6 tests
  • Decreased proportion of CD4-positive helper T cells3 tests
  • Decreased renal tubular phosphate excretion6 tests
  • Decreased response to growth hormone stimulation test9 tests
  • Decreased serum insulin-like growth factor 12 tests
  • Decreased skull ossification11 tests
  • Decreased T cell activation3 tests
  • Decreased testicular size14 tests
  • Decreased testosterone in males5 tests
  • Deep palmar crease1 test
  • Deep philtrum11 tests
  • Deep plantar creases1 test
  • Deeply set eye20 tests
  • Defective T cell proliferation3 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase7 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase10 tests
  • Deficiency of acetyl-CoA acetyltransferase14 tests
  • Deficiency of alpha-mannosidase10 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase7 tests
  • Deficiency of beta-ureidopropionase4 tests
  • Deficiency of bisphosphoglycerate mutase3 tests
  • Deficiency of butyryl-CoA dehydrogenase16 tests
  • Deficiency of cytochrome-b5 reductase5 tests
  • Deficiency of ferroxidase6 tests
  • Deficiency of galactokinase11 tests
  • Deficiency of glycerol kinase5 tests
  • Deficiency of guanidinoacetate methyltransferase16 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase15 tests
  • Deficiency of iodide peroxidase3 tests
  • Deficiency of isobutyryl-CoA dehydrogenase4 tests
  • Deficiency of malonyl-CoA decarboxylase7 tests
  • Deficiency of phosphoserine phosphatase1 test
  • Deficiency of pyrroline-5-carboxylate reductase8 tests
  • Deficiency of ribose-5-phosphate isomerase2 tests
  • Deficiency of steroid 11-beta-monooxygenase8 tests
  • Deficiency of steroid 17-alpha-monooxygenase10 tests
  • Deficiency of transaldolase2 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase14 tests
  • Degeneration of anterior horn cells2 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
  • Dehydration3 tests
  • Dejerine-Sottas disease12 tests
  • Delayed closure of the anterior fontanelle3 tests
  • Delayed cranial suture closure12 tests
  • Delayed eruption of teeth15 tests
  • Delayed gross motor development8 tests
  • Delayed myelination28 tests
  • Delayed ossification of carpal bones1 test
  • Delayed puberty7 tests
  • Delayed skeletal maturation38 tests
  • Delayed sleep phase syndrome, susceptibility to4 tests
  • Delayed speech and language development83 tests
  • delta Thalassemia2 tests
  • Delta-0-thalassemia2 tests
  • Dementia15 tests
  • Dengue virus, susceptibility to2 tests
  • Dent disease type 17 tests
  • Dent disease type 211 tests
  • Dental crowding18 tests
  • Dental enamel pits4 tests
  • Dental malocclusion20 tests
  • Dentatorubral-pallidoluysian atrophy4 tests
  • Denticles11 tests
  • Dentin dysplasia type I2 tests
  • Dentinogenesis imperfecta type 26 tests
  • Dentinogenesis imperfecta type 36 tests
  • Depressed nasal bridge48 tests
  • Depressed nasal ridge16 tests
  • Depression9 tests
  • Dermatitis, atopic, 24 tests
  • Dermatofibrosarcoma protuberans3 tests
  • Dermatofibrosis lenticularis disseminata4 tests
  • Dermatopathia pigmentosa reticularis3 tests
  • Desbuquois dysplasia 16 tests
  • Desbuquois dysplasia 22 tests
  • Desmin-related myofibrillar myopathy15 tests
  • Desmosterolosis7 tests
  • Developmental and epileptic encephalopathy 948 tests
  • Developmental and epileptic encephalopathy, 117 tests
  • Developmental and epileptic encephalopathy, 1110 tests
  • Developmental and epileptic encephalopathy, 124 tests
  • Developmental and epileptic encephalopathy, 1310 tests
  • Developmental and epileptic encephalopathy, 198 tests
  • Developmental and epileptic encephalopathy, 212 tests
  • Developmental and epileptic encephalopathy, 247 tests
  • Developmental and epileptic encephalopathy, 368 tests
  • Developmental and epileptic encephalopathy, 399 tests
  • Developmental and epileptic encephalopathy, 414 tests
  • Developmental and epileptic encephalopathy, 56 tests
  • Developmental and epileptic encephalopathy, 712 tests
  • Developmental and epileptic encephalopathy, 88 tests
  • Developmental and epileptic encephalopathy, 914 tests
  • Developmental cataract19 tests
  • Developmental delay with autism spectrum disorder and gait instability1 test
  • Developmental dysplasia of the hip 12 tests
  • Developmental malformations-deafness-dystonia syndrome13 tests
  • Developmental regression33 tests
  • Deviation of finger3 tests
  • Deviation of the 5th finger2 tests
  • Dextrocardia2 tests
  • Diabetes insipidus11 tests
  • Diabetes insipidus, nephrogenic, autosomal6 tests
  • Diabetes insipidus, nephrogenic, X-linked3 tests
  • Diabetes mellitus22 tests
  • Diabetes mellitus type 116 tests
  • Diabetes mellitus, ketosis-prone4 tests
  • Diabetes mellitus, noninsulin-dependent, 12 tests
  • Diabetes mellitus, transient neonatal, 16 tests
  • Diabetes mellitus, transient neonatal, 219 tests
  • Diabetes mellitus, transient neonatal, 316 tests
  • Diamond-Blackfan anemia10 tests
  • Diamond-Blackfan anemia 105 tests
  • Diamond-Blackfan anemia 35 tests
  • Diamond-Blackfan anemia 57 tests
  • Diamond-Blackfan anemia 66 tests
  • Diamond-Blackfan anemia 75 tests
  • Diamond-Blackfan anemia 85 tests
  • Diamond-Blackfan anemia 95 tests
  • Diaphanospondylodysostosis2 tests
  • Diaphragmatic hernia 36 tests
  • Diaphyseal cortical sclerosis2 tests
  • Diaphyseal dysplasia5 tests
  • Diarrhea15 tests
  • Diastema2 tests
  • Diastrophic dysplasia10 tests
  • Dicarboxylic aciduria2 tests
  • Dicarboxylic aminoaciduria1 test
  • Difficulty climbing stairs5 tests
  • Difficulty running6 tests
  • Difficulty walking16 tests
  • Diffuse nonepidermolytic palmoplantar keratoderma3 tests
  • Diffuse palmoplantar hyperkeratosis2 tests
  • DiGeorge syndrome12 tests
  • Dihydropteridine reductase deficiency12 tests
  • Dihydropyrimidinase deficiency3 tests
  • Dihydropyrimidine dehydrogenase deficiency14 tests
  • Dilated cardiomyopathy 1A24 tests
  • Dilated cardiomyopathy 1AA9 tests
  • Dilated cardiomyopathy 1BB10 tests
  • Dilated cardiomyopathy 1C17 tests
  • Dilated cardiomyopathy 1CC8 tests
  • Dilated cardiomyopathy 1D11 tests
  • Dilated cardiomyopathy 1DD9 tests
  • Dilated cardiomyopathy 1E18 tests
  • Dilated cardiomyopathy 1EE8 tests
  • Dilated cardiomyopathy 1FF11 tests
  • Dilated cardiomyopathy 1G19 tests
  • Dilated cardiomyopathy 1GG16 tests
  • Dilated cardiomyopathy 1HH9 tests
  • Dilated cardiomyopathy 1I15 tests
  • Dilated cardiomyopathy 1II12 tests
  • Dilated cardiomyopathy 1J8 tests
  • Dilated cardiomyopathy 1JJ6 tests
  • Dilated cardiomyopathy 1KK7 tests
  • Dilated cardiomyopathy 1L14 tests
  • Dilated cardiomyopathy 1M7 tests
  • Dilated cardiomyopathy 1O11 tests
  • Dilated cardiomyopathy 1P10 tests
  • Dilated cardiomyopathy 1R10 tests
  • Dilated cardiomyopathy 1S14 tests
  • Dilated cardiomyopathy 1T7 tests
  • Dilated cardiomyopathy 1U6 tests
  • Dilated cardiomyopathy 1V6 tests
  • Dilated cardiomyopathy 1W8 tests
  • Dilated cardiomyopathy 1X28 tests
  • Dilated cardiomyopathy 1Y9 tests
  • Dilated cardiomyopathy 1Z7 tests
  • Dilated cardiomyopathy 2A11 tests
  • Dilated cardiomyopathy 2B6 tests
  • Dilated cardiomyopathy 3B15 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome24 tests
  • Dilated fourth ventricle6 tests
  • Dimethylglycine dehydrogenase deficiency3 tests
  • Disinhibition6 tests
  • Dislocated radial head6 tests
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Displacement of the urethral meatus34 tests
  • Disproportionate short stature2 tests
  • Disproportionate short-limb short stature9 tests
  • Disproportionate short-trunk short stature4 tests
  • Disseminated intravascular coagulation4 tests
  • Distal amyotrophy10 tests
  • Distal arthrogryposis3 tests
  • Distal arthrogryposis type 2B112 tests
  • Distal muscle weakness4 tests
  • Distal myopathy with anterior tibial onset11 tests
  • Distal myopathy with posterior leg and anterior hand involvement13 tests
  • Distal myopathy, Tateyama type19 tests
  • Distal sensory impairment17 tests
  • Distal shortening of limbs2 tests
  • Distichiasis-lymphedema syndrome4 tests
  • Dizygotic twins5 tests
  • DK1-congenital disorder of glycosylation11 tests
  • DNA ligase IV deficiency7 tests
  • Dolichocephaly11 tests
  • Dominant beta-thalassemia17 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin7 tests
  • Donnai-Barrow syndrome6 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency12 tests
  • Dopamine beta-hydroxylase deficiency4 tests
  • Dopamine receptor d2, reduced brain density of2 tests
  • Down-sloping shoulders1 test
  • Downslanted palpebral fissures72 tests
  • Downturned corners of mouth23 tests
  • Doyne honeycomb retinal dystrophy6 tests
  • DPAGT1-congenital disorder of glycosylation10 tests
  • DPM3-congenital disorder of glycosylation8 tests
  • Drash syndrome11 tests
  • Drooling2 tests
  • Dry skin13 tests
  • Duane retraction syndrome 24 tests
  • Duane-radial ray syndrome6 tests
  • Dubin-Johnson syndrome4 tests
  • Duchenne muscular dystrophy15 tests
  • Duodenal atresia14 tests
  • Duodenal stenosis1 test
  • Duplication of thumb phalanx1 test
  • Dyggve-Melchior-Clausen syndrome5 tests
  • DYRK1A-related intellectual disability syndrome6 tests
  • Dysarthria62 tests
  • dyschromatosis1 test
  • Dyschromatosis universalis hereditaria 35 tests
  • Dysdiadochokinesis8 tests
  • Dysequilibrium syndrome9 tests
  • Dysgenesis of the cerebellar vermis8 tests
  • Dyskeratosis congenita4 tests
  • Dyskeratosis congenita, autosomal dominant 122 tests
  • Dyskeratosis congenita, autosomal dominant 210 tests
  • Dyskeratosis congenita, autosomal dominant 38 tests
  • Dyskeratosis congenita, autosomal recessive 117 tests
  • Dyskeratosis congenita, autosomal recessive 28 tests
  • Dyskeratosis congenita, autosomal recessive 36 tests
  • Dyskeratosis congenita, X-linked9 tests
  • Dyskinesia9 tests
  • Dyskinesia with orofacial involvement, autosomal dominant3 tests
  • Dyslexia, susceptibility to, 22 tests
  • Dysmetria20 tests
  • Dysmetric saccades7 tests
  • Dysphagia40 tests
  • Dysphonia14 tests
  • Dysplastic corpus callosum2 tests
  • Dyspnea12 tests
  • Dyssynergia69 tests
  • Dystonia 127 tests
  • Dystonia 164 tests
  • Dystonia 59 tests
  • Dystonia 917 tests
  • Dystonic disorder43 tests
  • Early infantile epileptic encephalopathy with suppression bursts23 tests
  • Early myoclonic encephalopathy8 tests
  • Early-onset generalized limb-onset dystonia4 tests
  • Early-onset myopathy with fatal cardiomyopathy19 tests
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome3 tests
  • EAST syndrome11 tests
  • Easy fatigability6 tests
  • Eclampsia2 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant4 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive4 tests
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant3 tests
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive3 tests
  • Ectodermal dysplasia 4, hair/nail type2 tests
  • Ectodermal dysplasia and immunodeficiency 25 tests
  • Ectopia lentis2 tests
  • Ectopia lentis 1, isolated, autosomal dominant14 tests
  • Ectopia lentis 2, isolated, autosomal recessive3 tests
  • Ectopia lentis et pupillae3 tests
  • Ectopic anus7 tests
  • Ectopic kidney4 tests
  • Ectrodactyly16 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 36 tests
  • Eculizumab, poor response to4 tests
  • Eczema10 tests
  • Edema3 tests
  • EEG abnormality38 tests
  • EEG with irregular generalized spike and wave complexes6 tests
  • EEG with photoparoxysmal response6 tests
  • EEM syndrome6 tests
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome progeroid type9 tests
  • Ehlers-Danlos syndrome, arthrochalasis type10 tests
  • Ehlers-Danlos syndrome, cardiac valvular type8 tests
  • Ehlers-Danlos syndrome, classic type14 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type11 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type4 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 16 tests
  • Ehlers-Danlos syndrome, musculocontractural type7 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type5 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 25 tests
  • Ehlers-Danlos syndrome, type 38 tests
  • Ehlers-Danlos syndrome, type 48 tests
  • Eiken syndrome5 tests
  • Elbow dislocation6 tests
  • Elbow flexion contracture14 tests
  • Elevated circulating acylcarnitine concentration2 tests
  • Elevated circulating alkaline phosphatase concentration4 tests
  • Elevated circulating creatine kinase concentration46 tests
  • Elevated circulating creatinine concentration5 tests
  • Elevated circulating growth hormone concentration2 tests
  • Elevated circulating thyroid-stimulating hormone concentration2 tests
  • Elevated hepatic transaminase33 tests
  • Elevated plasma branched chain amino acids2 tests
  • Elevated red cell adenosine deaminase level2 tests
  • Elliptocytosis 13 tests
  • Elliptocytosis 24 tests
  • Ellis-van Creveld syndrome13 tests
  • Elongated superior cerebellar peduncle8 tests
  • Embryonal rhabdomyosarcoma2 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant9 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant4 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant12 tests
  • EMG abnormality22 tests
  • Emotional lability8 tests
  • Emphysema9 tests
  • Enamel hypoplasia10 tests
  • Encephalitis8 tests
  • Encephalocele23 tests
  • Encephalopathy18 tests
  • Encephalopathy due to GLUT1 deficiency17 tests
  • Encephalopathy due to prosaposin deficiency12 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 428 tests
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 18 tests
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome11 tests
  • Endocrine-cerebro-osteodysplasia syndrome3 tests
  • Endometrial carcinoma39 tests
  • Endometriosis3 tests
  • Enhanced S-cone syndrome9 tests
  • Enhancement of the C-reflex6 tests
  • Enlarged fossa interpeduncularis8 tests
  • Enlarged labia minora9 tests
  • Enlarged thorax19 tests
  • Enterocolitis5 tests
  • Enterokinase deficiency2 tests
  • Enuresis1 test
  • Eosinophil peroxidase deficiency3 tests
  • Eosinophilia2 tests
  • Epicanthal fold63 tests
  • Epidermal nevus38 tests
  • Epidermodysplasia verruciformis, susceptibility to, 14 tests
  • Epidermolysis bullosa pruriginosa7 tests
  • Epidermolysis bullosa simplex 1A, generalized severe6 tests
  • Epidermolysis bullosa simplex 1C, localized8 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive6 tests
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency2 tests
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy5 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia5 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema5 tests
  • Epidermolysis bullosa simplex with mottled pigmentation5 tests
  • Epidermolysis bullosa simplex, Koebner type6 tests
  • Epidermolysis bullosa simplex, Ogna type5 tests
  • Epidermolytic palmoplantar keratoderma4 tests
  • Epilepsy, childhood absence 210 tests
  • Epilepsy, childhood absence, susceptibility to, 59 tests
  • Epilepsy, childhood absence, susceptibility to, 66 tests
  • Epilepsy, familial focal, with variable foci 18 tests
  • Epilepsy, familial temporal lobe, 15 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 108 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 1110 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 1217 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 138 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 814 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 97 tests
  • Epilepsy, juvenile absence, susceptibility to, 14 tests
  • Epilepsy, progressive myoclonic, 1B6 tests
  • Epileptic encephalopathy30 tests
  • Epileptic spasm4 tests
  • Epiphora1 test
  • Epiphyseal dysplasia, multiple, 28 tests
  • Epiphyseal dysplasia, multiple, 36 tests
  • Epiphyseal dysplasia, multiple, 610 tests
  • Episodic ataxia type 112 tests
  • Episodic ataxia type 217 tests
  • Episodic ataxia type 57 tests
  • Episodic ataxia type 68 tests
  • Episodic kinesigenic dyskinesia 111 tests
  • Episodic pain syndrome, familial, 27 tests
  • Episodic tachypnea8 tests
  • Episodic vomiting1 test
  • Epistaxis16 tests
  • Epithelial basement membrane dystrophy5 tests
  • Erectile dysfunction9 tests
  • Erysipelas5 tests
  • Erythrocyte AMP deaminase deficiency3 tests
  • Erythrocytosis1 test
  • Erythrocytosis, familial, 35 tests
  • Erythrocytosis, familial, 44 tests
  • Erythroderma3 tests
  • Erythroid hypoplasia4 tests
  • Erythrokeratoderma, reticular4 tests
  • Erythrokeratodermia variabilis et progressiva 16 tests
  • Esophageal stenosis12 tests
  • Esophageal varix8 tests
  • Esotropia17 tests
  • Essential fructosuria2 tests
  • Essential hypertension18 tests
  • Essential pentosuria3 tests
  • Essential thrombocythemia9 tests
  • Essential tremor1 test
  • Estrogen resistance syndrome1 test
  • Ethylmalonic encephalopathy11 tests
  • Euthyroid goiter8 tests
  • Euthyroid hyperthyroxinemia1 test
  • Everted lower lip vermilion20 tests
  • Ewing sarcoma2 tests
  • Exaggerated cupid's bow4 tests
  • Exercise intolerance14 tests
  • Exercise-induced hemolysis2 tests
  • Exercise-induced hyperinsulinism7 tests
  • Exertional dyspnea7 tests
  • Exostoses, multiple, type 25 tests
  • Exotropia6 tests
  • External ear malformation7 tests
  • External genital hypoplasia3 tests
  • Externally rotated/abducted legs8 tests
  • Extrahepatic biliary atresia1 test
  • Extramedullary hematopoiesis9 tests
  • Extraskeletal myxoid chondrosarcoma3 tests
  • Exudative vitreoretinopathy 112 tests
  • Exudative vitreoretinopathy 2, X-linked11 tests
  • Exudative vitreoretinopathy 410 tests
  • Exudative vitreoretinopathy 55 tests
  • Eyelid apraxia1 test
  • Eyelid coloboma11 tests
  • Ezetimibe response2 tests
  • Fabry disease15 tests
  • Facial cleft1 test
  • Facial diplegia3 tests
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome8 tests
  • Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome2 tests
  • Facial palsy30 tests
  • Facioscapulohumeral muscular dystrophy 13 tests
  • Factor 5 and Factor VIII, combined deficiency of, 24 tests
  • Factor H deficiency9 tests
  • Factor V and factor VIII, combined deficiency of, type 14 tests
  • Factor V deficiency8 tests
  • Factor VII deficiency6 tests
  • Factor X deficiency5 tests
  • Factor XII deficiency disease7 tests
  • Factor XIII, A subunit, deficiency of6 tests
  • Factor XIII, b subunit, deficiency of6 tests
  • FADD-related immunodeficiency3 tests
  • Failure to thrive72 tests
  • Fair hair9 tests
  • Falls4 tests
  • Familial acne inversa3 tests
  • Familial acute necrotizing encephalopathy5 tests
  • Familial adenomatous polyposis 112 tests
  • Familial adenomatous polyposis 28 tests
  • Familial amyloid nephropathy with urticaria AND deafness8 tests
  • Familial aortopathy1 test
  • Familial apolipoprotein C-II deficiency3 tests
  • Familial atrial myxoma12 tests
  • Familial benign flecked retina6 tests
  • Familial benign pemphigus3 tests
  • Familial cancer of breast68 tests
  • Familial chronic mucocutaneous candidiasis3 tests
  • Familial cold autoinflammatory syndrome9 tests
  • Familial cold autoinflammatory syndrome 24 tests
  • Familial cold autoinflammatory syndrome 35 tests
  • Familial colorectal cancer2 tests
  • Familial congenital nasolacrimal duct obstruction1 test
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome6 tests
  • Familial cylindromatosis6 tests
  • Familial digital arthropathy-brachydactyly11 tests
  • Familial encephalopathy with neuroserpin inclusion bodies6 tests
  • Familial episodic pain syndrome2 tests
  • Familial episodic pain syndrome with predominantly upper body involvement1 test
  • Familial expansile osteolysis7 tests
  • Familial exudative vitreoretinopathy7 tests
  • Familial gestational hyperthyroidism4 tests
  • Familial hemophagocytic lymphohistiocytosis 24 tests
  • Familial hemophagocytic lymphohistiocytosis 34 tests
  • Familial hemophagocytic lymphohistiocytosis 45 tests
  • Familial hemophagocytic lymphohistiocytosis 54 tests
  • Familial hyperaldosteronism type III8 tests
  • Familial hypercholesterolemia17 tests
  • Familial hyperkalemic periodic paralysis12 tests
  • Familial hyperthyroidism due to mutations in TSH receptor4 tests
  • Familial hypobetalipoproteinemia6 tests
  • Familial hypobetalipoproteinemia 16 tests
  • Familial hypobetalipoproteinemia 22 tests
  • Familial hypocalciuric hypercalcemia14 tests
  • Familial hypocalciuric hypercalcemia 13 tests
  • Familial hypokalemia-hypomagnesemia10 tests
  • Familial hypoparathyroidism4 tests
  • Familial idiopathic hypercalciuria2 tests
  • Familial infantile myasthenia6 tests
  • Familial isolated congenital asplenia2 tests
  • Familial isolated deficiency of vitamin E13 tests
  • Familial juvenile hyperuricemic nephropathy type 17 tests
  • Familial juvenile hyperuricemic nephropathy type 26 tests
  • Familial Mediterranean fever9 tests
  • Familial Mediterranean fever, autosomal dominant9 tests
  • Familial medullary thyroid carcinoma21 tests
  • Familial melanoma1 test
  • Familial meningioma36 tests
  • Familial multiple trichoepitheliomata6 tests
  • Familial partial lipodystrophy, Dunnigan type24 tests
  • Familial porencephaly16 tests
  • Familial porphyria cutanea tarda9 tests
  • Familial prostate carcinoma2 tests
  • Familial pulmonary capillary hemangiomatosis2 tests
  • Familial renal glucosuria3 tests
  • Familial retinal arterial macroaneurysm3 tests
  • Familial scaphocephaly syndrome, McGillivray type10 tests
  • Familial spontaneous pneumothorax8 tests
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness9 tests
  • Familial temporal lobe epilepsy 57 tests
  • Familial thoracic aortic aneurysm and aortic dissection6 tests
  • Familial thyroid dyshormonogenesis 14 tests
  • Familial type 5 hyperlipoproteinemia4 tests
  • Familial ventricular tachycardia1 test
  • Familial visceral amyloidosis, Ostertag type10 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets6 tests
  • Fanconi anemia1 test
  • Fanconi anemia complementation group A10 tests
  • Fanconi anemia complementation group B10 tests
  • Fanconi anemia complementation group C17 tests
  • Fanconi anemia complementation group D123 tests
  • Fanconi anemia complementation group D26 tests
  • Fanconi anemia complementation group E6 tests
  • Fanconi anemia complementation group F6 tests
  • Fanconi anemia complementation group G11 tests
  • Fanconi anemia complementation group I6 tests
  • Fanconi anemia complementation group J13 tests
  • Fanconi anemia complementation group L6 tests
  • Fanconi anemia complementation group N14 tests
  • Fanconi anemia complementation group O12 tests
  • Fanconi anemia complementation group P7 tests
  • Fanconi anemia complementation group Q10 tests
  • Fanconi anemia complementation group T1 test
  • Fanconi anemia, complementation group M6 tests
  • Fanconi renotubular syndrome 24 tests
  • Fanconi syndrome4 tests
  • Fanconi-Bickel syndrome8 tests
  • Farber lipogranulomatosis6 tests
  • Fasciculations19 tests
  • Fasting plasma glucose level quantitative trait locus 53 tests
  • Fatal familial insomnia4 tests
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 39 tests
  • Fatigable weakness3 tests
  • Fatigue4 tests
  • Febrile seizure (within the age range of 3 months to 6 years)2 tests
  • Febrile seizures, familial, 117 tests
  • Febrile seizures, familial, 49 tests
  • Febrile seizures, familial, 810 tests
  • Feeding difficulties48 tests
  • Feeding difficulties in infancy50 tests
  • Feingold syndrome type 16 tests
  • Female pseudohermaphroditism13 tests
  • Femoral bowing12 tests
  • Fetal akinesia deformation sequence 118 tests
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome8 tests
  • Fetal growth restriction72 tests
  • Fetal hemoglobin quantitative trait locus 117 tests
  • Fetal hemoglobin quantitative trait locus 62 tests
  • Fetal megacystis1 test
  • Fever6 tests
  • FG syndrome 114 tests
  • FG syndrome 224 tests
  • FGFR2-related bent bone dysplasia10 tests
  • Fibrochondrogenesis 110 tests
  • Fibrochondrogenesis 213 tests
  • Fibroma2 tests
  • Fibrosarcoma2 tests
  • Fibrosis of extraocular muscles, congenital, 23 tests
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement8 tests
  • Fibrous dysplasia of jaw5 tests
  • Fibrous Sheath Dysplasia1 test
  • Fibular hypoplasia1 test
  • Filippi syndrome3 tests
  • Fine hair8 tests
  • Finger syndactyly35 tests
  • Fingerprint intracellular accumulation of autofluorescent lipopigment storage material9 tests
  • Finnish congenital nephrotic syndrome10 tests
  • Fish-eye disease7 tests
  • Flank pain1 test
  • Flared metaphysis3 tests
  • Flat acetabular roof3 tests
  • Flat capital femoral epiphysis1 test
  • Flat face6 tests
  • Flat forehead1 test
  • Flat occiput10 tests
  • Flattened femoral head1 test
  • Fleck corneal dystrophy4 tests
  • Flexed deformity1 test
  • Flexion contracture35 tests
  • Floating-Harbor syndrome5 tests
  • Focal dermal hypoplasia8 tests
  • Focal epilepsy1 test
  • Focal facial dermal dysplasia type III2 tests
  • Focal impaired awareness seizure9 tests
  • Focal segmental glomerulosclerosis10 tests
  • Focal segmental glomerulosclerosis 14 tests
  • Focal segmental glomerulosclerosis 25 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to5 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to4 tests
  • Focal segmental glomerulosclerosis 59 tests
  • Focal segmental glomerulosclerosis 63 tests
  • Focal-onset seizure12 tests
  • Follicular hyperplasia8 tests
  • Follicular lymphoma, susceptibility to, 13 tests
  • Foot dorsiflexor weakness11 tests
  • Foot oligodactyly2 tests
  • Foot polydactyly15 tests
  • Forearm reduction defects4 tests
  • Forebrain defects2 tests
  • Foveal hypoplasia 118 tests
  • Fowler syndrome2 tests
  • Fractures of the long bones2 tests
  • Fragile site 11b8 tests
  • Fragile skin3 tests
  • Fragile X syndrome18 tests
  • Fragile X-associated tremor/ataxia syndrome18 tests
  • Frank-Ter Haar syndrome6 tests
  • Fraser syndrome 17 tests
  • Frasier syndrome11 tests
  • FRAXE4 tests
  • Freckling6 tests
  • Freeman-Sheldon syndrome5 tests
  • Frequent falls6 tests
  • Friedreich ataxia 112 tests
  • Frontal bossing44 tests
  • Frontal encephalocele9 tests
  • Frontometaphyseal dysplasia 124 tests
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome3 tests
  • Frontonasal dysplasia with alopecia and genital anomaly5 tests
  • Frontoparietal polymicrogyria7 tests
  • Frontotemporal dementia16 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 19 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 66 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 74 tests
  • Fructose-biphosphatase deficiency8 tests
  • Fuchs' endothelial dystrophy3 tests
  • Fucosidosis7 tests
  • Fucosyltransferase 6 deficiency2 tests
  • Fuhrmann syndrome3 tests
  • Full cheeks21 tests
  • Fulminant hepatic failure2 tests
  • Fumarase deficiency20 tests
  • Functional abnormality of male internal genitalia1 test
  • Furrowed tongue6 tests
  • Gait ataxia28 tests
  • Gait disturbance47 tests
  • Galactorrhea1 test
  • Galactosialidosis, early infantile1 test
  • Galactosialidosis, late infantile1 test
  • Galactosylceramide beta-galactosidase deficiency16 tests
  • Gallbladder disease 45 tests
  • Galloway-Mowat syndrome 12 tests
  • Gallstones2 tests
  • Gamma-aminobutyric acid transaminase deficiency8 tests
  • Gamma-glutamylcysteine synthetase deficiency2 tests
  • Gangrene3 tests
  • GAPO syndrome1 test
  • Gardner syndrome12 tests
  • Gastric cancer8 tests
  • Gastric lymphoma3 tests
  • Gastritis5 tests
  • Gastroesophageal reflux27 tests
  • Gastrointestinal hemorrhage24 tests
  • Gastrointestinal stromal tumor29 tests
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis9 tests
  • Gaucher disease perinatal lethal16 tests
  • Gaucher disease type I16 tests
  • Gaucher disease type II16 tests
  • Gaucher disease type III16 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome16 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 15 tests
  • Gaze-evoked horizontal nystagmus6 tests
  • Gaze-evoked nystagmus7 tests
  • Geleophysic dysplasia 214 tests
  • Generalized amyotrophy13 tests
  • Generalized dominant dystrophic epidermolysis bullosa7 tests
  • Generalized dystonia10 tests
  • Generalized epilepsy6 tests
  • Generalized epilepsy with febrile seizures plus6 tests
  • Generalized epilepsy with febrile seizures plus, type 114 tests
  • Generalized epilepsy with febrile seizures plus, type 214 tests
  • Generalized epilepsy with febrile seizures plus, type 712 tests
  • Generalized epilepsy-paroxysmal dyskinesia syndrome5 tests
  • Generalized hyperpigmentation24 tests
  • Generalized hypopigmentation3 tests
  • Generalized hypotonia14 tests
  • Generalized juvenile polyposis/juvenile polyposis coli19 tests
  • Generalized lipodystrophy2 tests
  • Generalized muscle weakness4 tests
  • Generalized myoclonic seizure5 tests
  • Generalized non-motor (absence) seizure11 tests
  • Generalized osteoporosis4 tests
  • Generalized pustular psoriasis4 tests
  • Generalized tonic seizure6 tests
  • Generalized tonic-clonic seizures11 tests
  • Genitopatellar syndrome8 tests
  • Genu recurvatum8 tests
  • Genu valgum9 tests
  • Genu varum7 tests
  • Geroderma osteodysplastica4 tests
  • Gerstmann-Straussler-Scheinker syndrome4 tests
  • Ghosal hematodiaphyseal dysplasia6 tests
  • Giant axonal neuropathy 18 tests
  • Giant somatosensory evoked potentials6 tests
  • GIL BLOOD GROUP1 test
  • Gilbert syndrome18 tests
  • Gilbert syndrome, susceptibility to9 tests
  • Gillespie syndrome18 tests
  • Gingival bleeding8 tests
  • Gingival fibromatosis1 test
  • Gingival overgrowth14 tests
  • Gingivitis1 test
  • Glanzmann thrombasthenia7 tests
  • Glaucoma49 tests
  • Glaucoma 1, open angle, A5 tests
  • Glaucoma 1, open angle, F2 tests
  • Glaucoma 1, open angle, G4 tests
  • Glaucoma 1, open angle, O4 tests
  • Glaucoma 3, primary congenital, D6 tests
  • Glaucoma 3, primary infantile, B13 tests
  • Glaucoma 3A11 tests
  • Glaucoma, normal tension, susceptibility to16 tests
  • Glioma susceptibility 16 tests
  • Glioma susceptibility 225 tests
  • Glioma susceptibility 323 tests
  • Gliosis18 tests
  • Global brain atrophy2 tests
  • Global developmental delay212 tests
  • Globozoospermia4 tests
  • Glomerulopathy1 test
  • Glomerulopathy with fibronectin deposits 24 tests
  • Glomuvenous malformation2 tests
  • Glossoptosis5 tests
  • Glucocorticoid deficiency 14 tests
  • Glucocorticoid deficiency 24 tests
  • Glucocorticoid deficiency with achalasia5 tests
  • Glucocorticoid resistance3 tests
  • Glucocorticoid therapy, response to2 tests
  • Glucocorticoid-remediable aldosteronism8 tests
  • Glucose intolerance6 tests
  • Glucose-6-phosphate transport defect13 tests
  • Glutamate formiminotransferase deficiency3 tests
  • Glutaric aciduria2 tests
  • Glutaric aciduria, type 113 tests
  • Glutaryl-CoA oxidase deficiency4 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria7 tests
  • Gluthathione peroxidase deficiency2 tests
  • Gluthathione synthetase deficiency7 tests
  • Glycerol release during exercise, defective1 test
  • Glycine N-methyltransferase deficiency3 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA17 tests
  • Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency4 tests
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency5 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency7 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency5 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency12 tests
  • Glycogen storage disease IXa17 tests
  • Glycogen storage disease IXb6 tests
  • Glycogen storage disease IXc7 tests
  • Glycogen storage disease IXd7 tests
  • Glycogen storage disease type III14 tests
  • Glycogen storage disease type X7 tests
  • Glycogen storage disease XV7 tests
  • Glycogen storage disease, type II20 tests
  • Glycogen storage disease, type IV12 tests
  • Glycogen storage disease, type V11 tests
  • Glycogen storage disease, type VI6 tests
  • Glycogen storage disease, type VII10 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency7 tests
  • Glycosuria13 tests
  • GM1 gangliosidosis1 test
  • GM1 gangliosidosis type 215 tests
  • GM1 gangliosidosis type 314 tests
  • GM1-gangliosidosis, type I, with cardiac involvement1 test
  • GM3 synthase deficiency6 tests
  • Gnathodiaphyseal dysplasia10 tests
  • GNE myopathy16 tests
  • Goiter2 tests
  • Gonadal dysgenesis7 tests
  • Gonadotropin-independent familial sexual precocity8 tests
  • Gordon syndrome4 tests
  • Gorlin syndrome12 tests
  • Gowers sign11 tests
  • GRACILE syndrome20 tests
  • Graft-versus-host disease, susceptibility to4 tests
  • Granular cell cancer1 test
  • Granular osmiophilic deposits (GROD) in cells9 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative8 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 23 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 33 tests
  • Granulomatous disease, chronic, X-linked6 tests
  • Gray platelet syndrome5 tests
  • Grebe syndrome4 tests
  • Greenberg dysplasia5 tests
  • Greig cephalopolysyndactyly syndrome13 tests
  • Griscelli syndrome type 15 tests
  • Griscelli syndrome type 27 tests
  • Griscelli syndrome type 34 tests
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions12 tests
  • Groenouw corneal dystrophy type I5 tests
  • Growth abnormality3 tests
  • Growth delay41 tests
  • Growth delay due to insulin-like growth factor I resistance4 tests
  • Growth delay due to insulin-like growth factor type 1 deficiency3 tests
  • growth hormone deficiency with short stature5 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive6 tests
  • GTP cyclohydrolase I deficiency9 tests
  • Guillain-Barre syndrome, familial8 tests
  • Guttmacher syndrome3 tests
  • Gynecomastia22 tests
  • H syndrome5 tests
  • Haim-Munk syndrome5 tests
  • Hair morphology 13 tests
  • Hajdu-Cheney syndrome10 tests
  • Hallucinations10 tests
  • Hallux valgus4 tests
  • Hamartoma1 test
  • Hamartoma of hypothalamus13 tests
  • Hamartoma of tongue7 tests
  • Hammertoe6 tests
  • Hand clenching8 tests
  • Hand oligodactyly9 tests
  • Hand polydactyly15 tests
  • Hand tremor2 tests
  • Hand-foot-genital syndrome3 tests
  • Hashimoto thyroiditis3 tests
  • Hawkinsinuria7 tests
  • Hb SS disease17 tests
  • Head titubation4 tests
  • Head tremor6 tests
  • Headache1 test
  • Hearing abnormality2 tests
  • Hearing impairment86 tests
  • Hearing loss, autosomal recessive14 tests
  • Hearing loss, X-linked 44 tests
  • Hearing loss, X-linked 65 tests
  • Heart-hand syndrome, Slovenian type24 tests
  • Hecht syndrome2 tests
  • Heinz body anemia17 tests
  • Helicobacter pylori infection, susceptibility to4 tests
  • Helicoid peripapillary chorioretinal degeneration4 tests
  • Hemangioma8 tests
  • Hematochezia6 tests
  • Hematologic neoplasm8 tests
  • Hematuria14 tests
  • Heme oxygenase 1 deficiency2 tests
  • Hemeralopia5 tests
  • Hemifacial hypertrophy17 tests
  • Hemifacial spasm8 tests
  • Hemimegalencephaly8 tests
  • Hemiparesis2 tests
  • Hemiplegia/hemiparesis34 tests
  • Hemivertebrae4 tests
  • Hemochromatosis type 110 tests
  • Hemochromatosis type 2B5 tests
  • Hemochromatosis type 39 tests
  • Hemochromatosis type 46 tests
  • Hemochromatosis type 54 tests
  • Hemoglobin H disease15 tests
  • Hemoglobinuria2 tests
  • Hemolytic anemia24 tests
  • Hemolytic anemia due to adenylate kinase deficiency2 tests
  • Hemolytic anemia due to glucophosphate isomerase deficiency4 tests
  • Hemolytic anemia due to hexokinase deficiency8 tests
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to7 tests
  • Hemolytic uremic syndrome, atypical, susceptibility to, 19 tests
  • Hemolytic-uremic syndrome6 tests
  • Hemoptysis5 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 16 tests
  • Heparan sulfate excretion in urine8 tests
  • Heparin cofactor II deficiency6 tests
  • Hepatic adenomas, familial7 tests
  • Hepatic methionine adenosyltransferase deficiency4 tests
  • Hepatic steatosis10 tests
  • Hepatic veno-occlusive disease-immunodeficiency syndrome6 tests
  • Hepatitis2 tests
  • Hepatitis B virus, susceptibility to7 tests
  • Hepatitis C virus, susceptibility to11 tests
  • Hepatocellular carcinoma24 tests
  • Hepatocellular necrosis8 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 111 tests
  • Hepatoerythropoietic porphyria1 test
  • Hepatomegaly72 tests
  • Hepatosplenomegaly5 tests
  • Hereditary acrodermatitis enteropathica8 tests
  • Hereditary angioedema type 13 tests
  • Hereditary angioedema type 36 tests
  • Hereditary antithrombin deficiency5 tests
  • Hereditary arterial and articular multiple calcification syndrome2 tests
  • Hereditary cancer-predisposing syndrome33 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type3 tests
  • Hereditary coproporphyria5 tests
  • Hereditary diffuse gastric adenocarcinoma17 tests
  • Hereditary diffuse leukoencephalopathy with spheroids4 tests
  • Hereditary disease14670 tests
  • Hereditary factor IX deficiency disease8 tests
  • Hereditary factor VIII deficiency disease7 tests
  • Hereditary factor XI deficiency disease13 tests
  • Hereditary fructosuria12 tests
  • Hereditary gingival fibromatosis10 tests
  • Hereditary hypercarotenemia and vitamin A deficiency2 tests
  • Hereditary hyperferritinemia with congenital cataracts7 tests
  • Hereditary hypotrichosis with recurrent skin vesicles2 tests
  • Hereditary insensitivity to pain with anhidrosis9 tests
  • Hereditary intrinsic factor deficiency3 tests
  • Hereditary liability to pressure palsies8 tests
  • Hereditary lymphedema type I3 tests
  • Hereditary motor and sensory neuropathy with optic atrophy11 tests
  • Hereditary motor and sensory neuropathy, Okinawa type2 tests
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency7 tests
  • Hereditary neutrophilia5 tests
  • Hereditary nonpolyposis colorectal carcinoma15 tests
  • Hereditary pancreatitis29 tests
  • Hereditary sensory and autonomic neuropathy type 16 tests
  • Hereditary sensory and autonomic neuropathy type 63 tests
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
  • Hereditary sensory neuropathy-deafness-dementia syndrome9 tests
  • Hereditary spastic paraplegia4 tests
  • Hereditary spastic paraplegia 109 tests
  • Hereditary spastic paraplegia 118 tests
  • Hereditary spastic paraplegia 123 tests
  • Hereditary spastic paraplegia 137 tests
  • Hereditary spastic paraplegia 158 tests
  • Hereditary spastic paraplegia 1716 tests
  • Hereditary spastic paraplegia 182 tests
  • Hereditary spastic paraplegia 213 tests
  • Hereditary spastic paraplegia 308 tests
  • Hereditary spastic paraplegia 319 tests
  • Hereditary spastic paraplegia 333 tests
  • Hereditary spastic paraplegia 359 tests
  • Hereditary spastic paraplegia 397 tests
  • Hereditary spastic paraplegia 3A10 tests
  • Hereditary spastic paraplegia 410 tests
  • Hereditary spastic paraplegia 427 tests
  • Hereditary spastic paraplegia 437 tests
  • Hereditary spastic paraplegia 446 tests
  • Hereditary spastic paraplegia 474 tests
  • Hereditary spastic paraplegia 483 tests
  • Hereditary spastic paraplegia 503 tests
  • Hereditary spastic paraplegia 513 tests
  • Hereditary spastic paraplegia 5A7 tests
  • Hereditary spastic paraplegia 63 tests
  • Hereditary spastic paraplegia 642 tests
  • Hereditary spastic paraplegia 710 tests
  • Hereditary spherocytosis type 14 tests
  • Hereditary spherocytosis type 24 tests
  • Hereditary spherocytosis type 34 tests
  • Hereditary spherocytosis type 48 tests
  • Hereditary spherocytosis type 54 tests
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX120 tests
  • Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency4 tests
  • Hereditary xanthinuria type 12 tests
  • Hermansky-Pudlak syndrome 112 tests
  • Hermansky-Pudlak syndrome 211 tests
  • Hermansky-Pudlak syndrome 312 tests
  • Hermansky-Pudlak syndrome 48 tests
  • Hermansky-Pudlak syndrome 58 tests
  • Hermansky-Pudlak syndrome 68 tests
  • Hermansky-Pudlak syndrome 79 tests
  • Hermansky-Pudlak syndrome 88 tests
  • Hermansky-Pudlak syndrome 98 tests
  • Hernia of the abdominal wall10 tests
  • Herpes simplex encephalitis, susceptibility to, 12 tests
  • Herpes simplex encephalitis, susceptibility to, 33 tests
  • Herpes simplex encephalitis, susceptibility to, 43 tests
  • Heterotaxy, visceral, 1, X-linked7 tests
  • Heterotaxy, visceral, 4, autosomal5 tests
  • Heterotopia4 tests
  • Heterotopia, periventricular, X-linked dominant24 tests
  • Hiatus hernia7 tests
  • Hidrotic ectodermal dysplasia syndrome12 tests
  • High anterior hairline3 tests
  • High CSF lactic acid2 tests
  • High density lipoprotein cholesterol level quantitative trait locus 123 tests
  • High density lipoprotein cholesterol level quantitative trait locus 62 tests
  • High forehead41 tests
  • High maternal circulating alpha-fetoprotein concentration2 tests
  • High molecular weight kininogen deficiency4 tests
  • High myopia13 tests
  • High myopia-sensorineural deafness syndrome6 tests
  • High palate59 tests
  • High pitched voice6 tests
  • Highly arched eyebrow36 tests
  • Hip contracture17 tests
  • Hip dislocation5 tests
  • Hip dysplasia, Beukes type1 test
  • Hip subluxation1 test
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction3 tests
  • Hirschsprung disease, susceptibility to, 113 tests
  • Hirschsprung disease, susceptibility to, 27 tests
  • Hirschsprung disease, susceptibility to, 35 tests
  • Hirschsprung disease, susceptibility to, 49 tests
  • Hirsutism10 tests
  • Histidinemia3 tests
  • Histiocytic medullary reticulosis13 tests
  • Histiocytoma2 tests
  • HNSHA due to aldolase A deficiency5 tests
  • Hoarse voice1 test
  • Holocarboxylase synthetase deficiency13 tests
  • Holoprosencephaly 113 tests
  • Holoprosencephaly 27 tests
  • Holoprosencephaly 38 tests
  • Holoprosencephaly 47 tests
  • Holoprosencephaly 57 tests
  • Holoprosencephaly 710 tests
  • Holoprosencephaly 99 tests
  • Holoprosencephaly sequence16 tests
  • Holt-Oram syndrome8 tests
  • Homocystinuria7 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency10 tests
  • Horizontal eyebrow2 tests
  • Horizontal nystagmus4 tests
  • Horizontal ribs4 tests
  • Horseshoe kidney26 tests
  • HSD10 mitochondrial disease13 tests
  • Human HOXA1 syndromes5 tests
  • Huntington disease3 tests
  • Huntington disease-like 14 tests
  • Huntington disease-like 22 tests
  • Hurler syndrome13 tests
  • Hurthle cell carcinoma of thyroid5 tests
  • Hutchinson-Gilford syndrome24 tests
  • Hyaline fibromatosis syndrome6 tests
  • Hydatidiform mole, recurrent, 13 tests
  • Hydatidiform mole, recurrent, 22 tests
  • Hydrocele testis1 test
  • Hydrocephalus67 tests
  • Hydrocephalus due to congenital stenosis of aqueduct of Sylvius7 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 22 tests
  • Hydrolethalus syndrome 17 tests
  • Hydrolethalus syndrome 213 tests
  • Hydronephrosis4 tests
  • Hydrops fetalis7 tests
  • Hydroureter1 test
  • Hydroxykynureninuria3 tests
  • Hyper-beta-alaninemia10 tests
  • Hyper-IgE recurrent infection syndrome 16 tests
  • Hyper-IgE syndrome7 tests
  • Hyper-IgM syndrome type 17 tests
  • Hyper-IgM syndrome type 24 tests
  • Hyper-IgM syndrome type 35 tests
  • Hyper-IgM syndrome type 56 tests
  • Hyperactive airways1 test
  • Hyperactive patellar reflex1 test
  • Hyperactivity11 tests
  • Hyperalphalipoproteinemia 12 tests
  • Hyperammonemia8 tests
  • Hyperammonemia, type III10 tests
  • Hyperapobetalipoproteinemia, susceptibility to2 tests
  • Hyperbilirubinemia9 tests
  • Hyperbiliverdinemia2 tests
  • Hypercalcemia4 tests
  • Hypercalcemia, infantile, 13 tests
  • Hypercalciuria1 test
  • Hypercholanemia, familial 110 tests
  • Hypercholesterolemia1 test
  • Hypercholesterolemia, autosomal dominant, 36 tests
  • Hypercholesterolemia, autosomal dominant, type B6 tests
  • Hypercholesterolemia, familial, 47 tests
  • Hypercortisolism3 tests
  • Hyperekplexia 110 tests
  • Hyperekplexia 25 tests
  • Hyperekplexia 33 tests
  • Hyperextensibility of the finger joints1 test
  • Hyperextensible skin9 tests
  • Hyperglycemia3 tests
  • Hyperglycinuria6 tests
  • Hyperhidrosis26 tests
  • Hyperimmunoglobulin D with periodic fever7 tests
  • Hyperinsulinemia15 tests
  • Hyperinsulinemic hypoglycemia1 test
  • Hyperinsulinemic hypoglycemia, familial, 119 tests
  • Hyperinsulinemic hypoglycemia, familial, 216 tests
  • Hyperinsulinemic hypoglycemia, familial, 412 tests
  • Hyperinsulinism due to glucokinase deficiency10 tests
  • Hyperinsulinism due to INSR deficiency12 tests
  • Hyperinsulinism-hyperammonemia syndrome12 tests
  • Hyperkeratosis23 tests
  • Hyperlipidemia2 tests
  • Hyperlipidemia due to hepatic triglyceride lipase deficiency3 tests
  • Hyperlipidemia, combined, 12 tests
  • Hyperlipidemia, familial combined, LPL related9 tests
  • Hyperlipoproteinemia, type 1D2 tests
  • Hyperlipoproteinemia, type I8 tests
  • Hyperlordosis13 tests
  • Hyperlysinemia6 tests
  • Hypermagnesemia3 tests
  • Hypermelanotic macule14 tests
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase3 tests
  • Hypermetropia13 tests
  • Hypernatremia1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome16 tests
  • Hyperparathyroidism1 test
  • Hyperparathyroidism 15 tests
  • Hyperphenylalaninemia7 tests
  • Hyperphosphatasemia tarda4 tests
  • Hyperphosphatasemia with bone disease4 tests
  • Hyperphosphatasia with intellectual disability syndrome 16 tests
  • Hyperphosphatasia with intellectual disability syndrome 25 tests
  • Hyperphosphatasia-intellectual disability syndrome2 tests
  • Hyperphosphatemia7 tests
  • Hyperphosphaturia16 tests
  • Hyperpigmentation with or without hypopigmentation, familial progressive4 tests
  • Hyperreflexia1 test
  • Hypertelorism85 tests
  • Hypertension, diastolic, resistance to3 tests
  • Hypertensive crisis5 tests
  • Hypertensive disorder25 tests
  • Hyperthyroidism2 tests
  • Hyperthyroxinemia, dystransthyretinemic12 tests
  • Hyperthyroxinemia, familial dysalbuminemic2 tests
  • Hypertonia51 tests
  • Hypertrichosis43 tests
  • Hypertrichotic osteochondrodysplasia Cantu type11 tests
  • Hypertriglyceridemia1 test
  • Hypertriglyceridemia, familial5 tests
  • Hypertrophic cardiomyopathy41 tests
  • Hypertrophic cardiomyopathy 127 tests
  • Hypertrophic cardiomyopathy 109 tests
  • Hypertrophic cardiomyopathy 1110 tests
  • Hypertrophic cardiomyopathy 127 tests
  • Hypertrophic cardiomyopathy 137 tests
  • Hypertrophic cardiomyopathy 148 tests
  • Hypertrophic cardiomyopathy 158 tests
  • Hypertrophic cardiomyopathy 167 tests
  • Hypertrophic cardiomyopathy 176 tests
  • Hypertrophic cardiomyopathy 1810 tests
  • Hypertrophic cardiomyopathy 196 tests
  • Hypertrophic cardiomyopathy 211 tests
  • Hypertrophic cardiomyopathy 208 tests
  • Hypertrophic cardiomyopathy 2512 tests
  • Hypertrophic cardiomyopathy 39 tests
  • Hypertrophic cardiomyopathy 49 tests
  • Hypertrophic cardiomyopathy 614 tests
  • Hypertrophic cardiomyopathy 711 tests
  • Hypertrophic cardiomyopathy 88 tests
  • Hypertrophic cardiomyopathy 919 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 13 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 22 tests
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome5 tests
  • Hyphema4 tests
  • Hypoalbuminemia8 tests
  • Hypoalphalipoproteinemia, primary, 15 tests
  • Hypobetalipoproteinemia4 tests
  • Hypocalcemia8 tests
  • Hypocalciuria3 tests
  • Hypochondroplasia17 tests
  • Hypochromic microcytic anemia8 tests
  • Hypofibrinogenemia8 tests
  • Hypoglycemia21 tests
  • Hypoglycemic seizures3 tests
  • Hypogonadism7 tests
  • Hypogonadotropic hypogonadism1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia8 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 14 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 16 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 2 with or without anosmia15 tests
  • Hypogonadotropic hypogonadism 24 without anosmia5 tests
  • Hypogonadotropic hypogonadism 3 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia20 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia10 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia7 tests
  • Hypohidrosis11 tests
  • Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome6 tests
  • Hypohidrotic X-linked ectodermal dysplasia5 tests
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy8 tests
  • Hypokalemic alkalosis3 tests
  • Hypokalemic periodic paralysis, type 115 tests
  • Hypokalemic periodic paralysis, type 212 tests
  • Hypokinesia16 tests
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism4 tests
  • Hypomelanotic macule1 test
  • Hypomimic face3 tests
  • Hypomyelinating leukodystrophy 26 tests
  • Hypomyelinating leukodystrophy 33 tests
  • Hypomyelinating leukodystrophy 47 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism6 tests
  • Hypomyelination and Congenital Cataract7 tests
  • Hypoparathyroidism5 tests
  • Hypoparathyroidism, deafness, renal disease syndrome6 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome4 tests
  • Hypophosphatemia1 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 14 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 23 tests
  • Hypophosphatemic rickets8 tests
  • Hypophosphatemic rickets, autosomal recessive, 16 tests
  • Hypophosphatemic rickets, autosomal recessive, 29 tests
  • Hypophosphatemic rickets, X-linked recessive7 tests
  • Hypopigmentation of hair17 tests
  • Hypopigmentation of the fundus3 tests
  • Hypopigmentation of the skin14 tests
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome9 tests
  • Hypopigmented skin patches29 tests
  • Hypoplasia of penis44 tests
  • Hypoplasia of the brainstem24 tests
  • Hypoplasia of the calcaneus2 tests
  • Hypoplasia of the corpus callosum79 tests
  • Hypoplasia of the ear cartilage7 tests
  • Hypoplasia of the femoral head1 test
  • Hypoplasia of the iris7 tests
  • Hypoplasia of the maxilla10 tests
  • Hypoplasia of the pons14 tests
  • Hypoplasia of the radius5 tests
  • Hypoplasia of the thymus9 tests
  • Hypoplasia of the ulna5 tests
  • Hypoplasia of the zygomatic bone11 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome3 tests
  • Hypoplastic fifth toenail3 tests
  • Hypoplastic iliac wing2 tests
  • Hypoplastic inferior ilia2 tests
  • Hypoplastic ischia2 tests
  • Hypoplastic labia majora3 tests
  • Hypoplastic left atrium4 tests
  • Hypoplastic left heart syndrome4 tests
  • Hypoplastic left heart syndrome 110 tests
  • Hypoplastic left heart syndrome 213 tests
  • Hypoplastic nipples4 tests
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome4 tests
  • Hypoplastic pelvis4 tests
  • Hypoplastic pubic bone1 test
  • Hypoplastic sacrum2 tests
  • Hypoplastic spleen3 tests
  • Hypoplastic superior helix2 tests
  • Hypoplastic thumbnail1 test
  • Hypoplastic toenails12 tests
  • Hypoplastic vertebral bodies1 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration11 tests
  • Hypoproteinemia, hypercatabolic4 tests
  • Hyporeflexia43 tests
  • Hyporeflexia of lower limbs1 test
  • Hyposmia3 tests
  • Hypospadias27 tests
  • Hypospadias 1, X-linked6 tests
  • Hypospadias 2, X-linked2 tests
  • Hypotelorism19 tests
  • Hypotension5 tests
  • Hypothalamic hypothyroidism1 test
  • Hypothyroidism15 tests
  • Hypothyroidism due to TSH receptor mutations4 tests
  • Hypothyroidism, congenital, nongoitrous, 23 tests
  • Hypothyroidism, congenital, nongoitrous, 513 tests
  • Hypotonia196 tests
  • Hypotonia with lactic acidemia and hyperammonemia5 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 14 tests
  • Hypotonia-failure to thrive-microcephaly syndrome2 tests
  • Hypotrichosis3 tests
  • Hypotrichosis 13 tests
  • Hypotrichosis 122 tests
  • Hypotrichosis 22 tests
  • Hypotrichosis 33 tests
  • Hypotrichosis 43 tests
  • Hypotrichosis 63 tests
  • Hypotrichosis 73 tests
  • Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
  • Hypouricemia, renal, 22 tests
  • Hypsarrhythmia20 tests
  • Ichthyosis18 tests
  • Ichthyosis bullosa of Siemens3 tests
  • Ichthyosis hystrix of Curth-Macklin3 tests
  • Ichthyosis prematurity syndrome5 tests
  • Ichthyosis vulgaris4 tests
  • Ichthyosis, hystrix-like, with hearing loss13 tests
  • Idiopathic basal ganglia calcification 14 tests
  • Idiopathic CD4 lymphocytopenia6 tests
  • Idiopathic hypereosinophilic syndrome5 tests
  • IFAP syndrome with or without BRESHECK syndrome4 tests
  • IgA glomerulonephritis2 tests
  • IgAD15 tests
  • IgE responsiveness, atopic14 tests
  • IL21-related infantile inflammatory bowel disease2 tests
  • Iliac crest serration1 test
  • IMAGe syndrome10 tests
  • Imbalanced hemoglobin synthesis2 tests
  • Imerslund-Grasbeck syndrome4 tests
  • Iminoglycinuria6 tests
  • Immotile cilia4 tests
  • Immotile sperm6 tests
  • Immunodeficiency31 tests
  • Immunodeficiency 1047 tests
  • Immunodeficiency 146 tests
  • Immunodeficiency 185 tests
  • Immunodeficiency 195 tests
  • Immunodeficiency 255 tests
  • Immunodeficiency 27A4 tests
  • Immunodeficiency 283 tests
  • Immunodeficiency 31B4 tests
  • Immunodeficiency 32B4 tests
  • Immunodeficiency 355 tests
  • Immunodeficiency 513 tests
  • Immunodeficiency 674 tests
  • Immunodeficiency due to CD25 deficiency5 tests
  • Immunodeficiency due to ficolin3 deficiency3 tests
  • Immunodeficiency due to MASP-2 deficiency3 tests
  • Immunodeficiency, common variable, 15 tests
  • Immunodeficiency, common variable, 29 tests
  • Immunodeficiency, common variable, 34 tests
  • Immunodeficiency, common variable, 54 tests
  • Immunodeficiency, common variable, 64 tests
  • Immunodeficiency, common variable, 75 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 15 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 25 tests
  • Immunoglobulin A deficiency 24 tests
  • Impaired ADP-induced platelet aggregation2 tests
  • Impaired distal tactile sensation1 test
  • Impaired distal vibration sensation1 test
  • Impaired horizontal smooth pursuit4 tests
  • Impaired mastication2 tests
  • Impaired pain sensation2 tests
  • Impaired smooth pursuit11 tests
  • Impaired vibration sensation in the lower limbs4 tests
  • Impdh2 enzyme activity, variation in2 tests
  • Imperforate anus2 tests
  • Inability to walk12 tests
  • Inappropriate laughter2 tests
  • Inborn mitochondrial myopathy1 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 16 tests
  • Incoordination56 tests
  • Increased analgesia from kappa-opioid receptor agonist, female-specific5 tests
  • Increased bone mineral density6 tests
  • Increased circulating antibody level15 tests
  • Increased circulating ferritin concentration6 tests
  • Increased circulating gonadotropin level1 test
  • Increased connective tissue3 tests
  • Increased CSF lactate15 tests
  • Increased hepatocellular lipid droplets6 tests
  • Increased intracranial pressure7 tests
  • Increased intramyocellular lipid droplets6 tests
  • Increased jitter at single fiber EMG3 tests
  • Increased LDL cholesterol concentration1 test
  • Increased mean platelet volume4 tests
  • Increased muscle glycogen content3 tests
  • Increased neuronal autofluorescent lipopigment9 tests
  • Increased nuchal translucency2 tests
  • Increased overbite1 test
  • Increased red cell hemolysis by shear stress2 tests
  • Increased renal tubular phosphate reabsorption6 tests
  • Increased serum lactate36 tests
  • Increased serum pyruvate6 tests
  • Increased urinary cortisol level3 tests
  • Infantile bilateral striatal necrosis3 tests
  • Infantile cerebellar-retinal degeneration10 tests
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly11 tests
  • Infantile convulsions and choreoathetosis12 tests
  • Infantile cortical hyperostosis9 tests
  • Infantile epilepsy1 test
  • Infantile GM1 gangliosidosis15 tests
  • Infantile hypophosphatasia12 tests
  • Infantile liver failure2 tests
  • Infantile myofibromatosis2 tests
  • Infantile nephronophthisis14 tests
  • Infantile neuroaxonal dystrophy13 tests
  • Infantile-onset ascending hereditary spastic paralysis7 tests
  • Infantile-onset X-linked spinal muscular atrophy4 tests
  • Infertility20 tests
  • Infertility associated with multi-tailed spermatozoa and excessive DNA5 tests
  • Inflammatory abnormality of the eye20 tests
  • Inflammatory bowel disease 16 tests
  • Inflammatory bowel disease 102 tests
  • Inflammatory bowel disease 132 tests
  • Inflammatory bowel disease 142 tests
  • Inflammatory bowel disease 172 tests
  • Inflammatory bowel disease 254 tests
  • Inflammatory bowel disease 284 tests
  • Inflammatory skin and bowel disease, neonatal, 13 tests
  • Influenza, severe, susceptibility to2 tests
  • Inguinal hernia14 tests
  • Inherited bleeding disorder, platelet-type7 tests
  • Inherited Creutzfeldt-Jakob disease4 tests
  • Inherited orthostatic hypotension4 tests
  • Inherited susceptibility to asthma13 tests
  • Inosine triphosphatase deficiency2 tests
  • Insulin insensitivity2 tests
  • Insulin resistance2 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome7 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans12 tests
  • Intellectual disability175 tests
  • intellectual disability with severe speech impairment2 tests
  • Intellectual disability, anterior maxillary protrusion, and strabismus3 tests
  • Intellectual disability, autosomal dominant 18 tests
  • Intellectual disability, autosomal dominant 103 tests
  • Intellectual disability, autosomal dominant 112 tests
  • Intellectual disability, autosomal dominant 1312 tests
  • Intellectual disability, autosomal dominant 144 tests
  • Intellectual disability, autosomal dominant 158 tests
  • Intellectual disability, autosomal dominant 169 tests
  • Intellectual disability, autosomal dominant 27 tests
  • Intellectual disability, autosomal dominant 2010 tests
  • Intellectual disability, autosomal dominant 33 tests
  • Intellectual disability, autosomal dominant 44 tests
  • Intellectual disability, autosomal dominant 58 tests
  • Intellectual disability, autosomal dominant 66 tests
  • Intellectual disability, autosomal dominant 87 tests
  • Intellectual disability, autosomal dominant 98 tests
  • Intellectual disability, autosomal recessive 13 tests
  • Intellectual disability, autosomal recessive 134 tests
  • Intellectual disability, autosomal recessive 144 tests
  • Intellectual disability, autosomal recessive 184 tests
  • Intellectual disability, autosomal recessive 23 tests
  • Intellectual disability, autosomal recessive 33 tests
  • Intellectual disability, autosomal recessive 343 tests
  • Intellectual disability, autosomal recessive 53 tests
  • Intellectual disability, autosomal recessive 63 tests
  • Intellectual disability, autosomal recessive 75 tests
  • Intellectual disability, FRA12A type2 tests
  • Intellectual disability, mild20 tests
  • Intellectual disability, moderate14 tests
  • Intellectual disability, profound5 tests
  • Intellectual disability, progressive1 test
  • Intellectual disability, severe15 tests
  • Intellectual disability, X-linked 19 tests
  • Intellectual disability, X-linked 196 tests
  • Intellectual disability, X-linked 215 tests
  • Intellectual disability, X-linked 305 tests
  • Intellectual disability, X-linked 414 tests
  • Intellectual disability, X-linked 454 tests
  • Intellectual disability, X-linked 464 tests
  • Intellectual disability, X-linked 584 tests
  • Intellectual disability, X-linked 636 tests
  • Intellectual disability, X-linked 728 tests
  • Intellectual disability, X-linked 94 tests
  • Intellectual disability, X-linked 904 tests
  • Intellectual disability, X-linked 913 tests
  • Intellectual disability, X-linked 935 tests
  • Intellectual disability, X-linked 966 tests
  • Intellectual disability, X-linked 974 tests
  • Intellectual disability, X-linked 994 tests
  • Intellectual disability, X-linked syndromic, Turner type6 tests
  • Intellectual disability, X-linked, with or without seizures, arx-related17 tests
  • Intellectual disability, X-linked, with panhypopituitarism7 tests
  • Intellectual disability-cataracts-calcified pinnae-myopathy syndrome1 test
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome5 tests
  • Intellectual disability-hypotonic facies syndrome, X-linked, 112 tests
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome4 tests
  • Intention tremor10 tests
  • Interferon gamma receptor deficiency1 test
  • Interleukin 6, serum level of, quantitative trait locus2 tests
  • Interstitial lung disease 227 tests
  • Interstitial lung disease due to ABCA3 deficiency4 tests
  • Interstitial nephritis6 tests
  • Intervertebral disc disorder16 tests
  • Intestinal atresia6 tests
  • Intestinal bleeding4 tests
  • Intestinal hypomagnesemia 14 tests
  • Intestinal malrotation8 tests
  • Intestinal obstruction7 tests
  • Intestinal polyposis13 tests
  • Intestinal pseudo-obstruction2 tests
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked24 tests
  • Intracerebral hemorrhage21 tests
  • Intracranial hemorrhage14 tests
  • Intractable seizure1 test
  • Intrahepatic biliary dysgenesis4 tests
  • Invasive pneumococcal disease, recurrent isolated5 tests
  • Inversion of nipple2 tests
  • Involuntary movements14 tests
  • Iodotyrosine deiodination defect2 tests
  • Iodotyrosyl coupling defect3 tests
  • Irido-corneo-trabecular dysgenesis25 tests
  • Iris atrophy2 tests
  • Iris coloboma39 tests
  • Iron deficiency anemia8 tests
  • Iron deposition in globus pallidus1 test
  • Irregular capital femoral epiphysis1 test
  • Irregular dentition5 tests
  • Irregular hyperpigmentation17 tests
  • Irregular menstruation3 tests
  • Irregular vertebral endplates1 test
  • Irritability5 tests
  • Ischemic stroke13 tests
  • Isolated congenital digital clubbing3 tests
  • Isolated focal cortical dysplasia type II19 tests
  • Isolated growth hormone deficiency type IB3 tests
  • Isolated hereditary congenital facial paralysis5 tests
  • Isolated hyperchlorhidrosis3 tests
  • Isolated lutropin deficiency7 tests
  • Isolated microphthalmia 210 tests
  • Isolated microphthalmia 34 tests
  • Isolated microphthalmia 45 tests
  • Isolated microphthalmia 57 tests
  • Isolated microphthalmia 66 tests
  • Isolated microphthalmia 74 tests
  • Isolated optic nerve hypoplasia18 tests
  • Isolated Pierre-Robin syndrome1 test
  • Isolated spina bifida4 tests
  • Isolated thyroid-stimulating hormone deficiency3 tests
  • Isovaleryl-CoA dehydrogenase deficiency12 tests
  • Jackson-Weiss syndrome19 tests
  • Jalili syndrome8 tests
  • Jaundice8 tests
  • Jawad syndrome6 tests
  • Jejunoileal ulceration4 tests
  • Jerk-locked premyoclonus spikes6 tests
  • Jerky ocular pursuit movements4 tests
  • Jervell and Lange-Nielsen syndrome16 tests
  • Jervell and Lange-Nielsen syndrome 213 tests
  • Jeune thoracic dystrophy6 tests
  • Johanson-Blizzard syndrome2 tests
  • Joint contracture of the hand10 tests
  • Joint dislocation9 tests
  • Joint hemorrhage7 tests
  • Joint hypermobility39 tests
  • Joint laxity22 tests
  • Joint stiffness2 tests
  • Joint swelling12 tests
  • Joubert syndrome41 tests
  • Joubert syndrome 1024 tests
  • Joubert syndrome 138 tests
  • Joubert syndrome 147 tests
  • Joubert syndrome 158 tests
  • Joubert syndrome 165 tests
  • Joubert syndrome 219 tests
  • Joubert syndrome 311 tests
  • Joubert syndrome 527 tests
  • Joubert syndrome 615 tests
  • Joubert syndrome 720 tests
  • Joubert syndrome 813 tests
  • Joubert syndrome 919 tests
  • Joubert syndrome with renal defect18 tests
  • Junctional epidermolysis bullosa gravis of Herlitz11 tests
  • Junctional epidermolysis bullosa with pyloric atresia8 tests
  • Junctional epidermolysis bullosa, non-Herlitz type16 tests
  • Juvenile cataract-microcornea-renal glucosuria syndrome4 tests
  • Juvenile myelomonocytic leukemia33 tests
  • Juvenile myoclonic epilepsy4 tests
  • Juvenile nephropathic cystinosis10 tests
  • Juvenile onset18 tests
  • Juvenile onset Parkinson disease 19A2 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome18 tests
  • Juvenile primary lateral sclerosis7 tests
  • Juvenile retinoschisis8 tests
  • Kabuki syndrome 110 tests
  • Kabuki syndrome 28 tests
  • Kahrizi syndrome10 tests
  • Kallikrein, decreased urinary activity of2 tests
  • Kaposi sarcoma2 tests
  • Kartagener syndrome28 tests
  • Karyomegalic interstitial nephritis6 tests
  • KAT6A syndrome4 tests
  • KBG syndrome6 tests
  • Kennedy disease6 tests
  • Kenny-Caffey syndrome3 tests
  • Keppen-Lubinsky syndrome2 tests
  • Keratan sulfate excretion in urine8 tests
  • Keratoconjunctivitis sicca1 test
  • Keratoconus 14 tests
  • Keratosis follicularis6 tests
  • Keratosis follicularis spinulosa decalvans, X-linked5 tests
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome3 tests
  • Keratosis palmoplantaris striata 212 tests
  • Keratosis palmoplantaris striata 33 tests
  • Keratosis pilaris7 tests
  • Keutel syndrome3 tests
  • Kidney damage18 tests
  • Kindler syndrome3 tests
  • Kleefstra syndrome 15 tests
  • Klippel-Feil syndrome 1, autosomal dominant5 tests
  • Klippel-Feil syndrome 3, autosomal dominant4 tests
  • Knee clonus4 tests
  • Knee flexion contracture17 tests
  • Kniest dysplasia20 tests
  • Knobloch syndrome9 tests
  • Knuckle pads, deafness AND leukonychia syndrome13 tests
  • Koolen-de Vries syndrome6 tests
  • Krabbe disease, atypical, due to saposin A deficiency12 tests
  • Kufor-Rakeb syndrome9 tests
  • Kuru, susceptibility to4 tests
  • Kyphoscoliosis29 tests
  • Kyphosis40 tests
  • L-2-hydroxyglutaric aciduria14 tests
  • L-ferritin deficiency7 tests
  • Lack of skin elasticity3 tests
  • Lacrimal duct atresia1 test
  • Lacrimation abnormality7 tests
  • Lactic acidosis35 tests
  • Lafora disease9 tests
  • LAMB2-related infantile-onset nephrotic syndrome5 tests
  • Landau-Kleffner syndrome7 tests
  • Language disorder8 tests
  • Large beaked nose2 tests
  • Large congenital melanocytic nevus8 tests
  • Large earlobe2 tests
  • Large fontanelles6 tests
  • Large for gestational age1 test
  • Large forehead1 test
  • Large hands2 tests
  • Large hyperpigmented retinal spots2 tests
  • Laron-type isolated somatotropin defect6 tests
  • Larsen syndrome10 tests
  • Larsen-like syndrome, B3GAT3 type6 tests
  • Laryngeal stridor3 tests
  • Laryngo-onycho-cutaneous syndrome8 tests
  • Late-onset distal muscle weakness3 tests
  • Late-onset retinal degeneration5 tests
  • Lathosterolosis2 tests
  • Lattice corneal dystrophy Type I5 tests
  • Lattice corneal dystrophy Type III4 tests
  • Laurin-Sandrow syndrome2 tests
  • LCAT deficiency6 tests
  • Leanness, inherited1 test
  • Learning disability1 test
  • Leber congenital amaurosis 17 tests
  • Leber congenital amaurosis 1026 tests
  • Leber congenital amaurosis 116 tests
  • Leber congenital amaurosis 126 tests
  • Leber congenital amaurosis 1310 tests
  • Leber congenital amaurosis 147 tests
  • Leber congenital amaurosis 156 tests
  • Leber congenital amaurosis 164 tests
  • Leber congenital amaurosis 175 tests
  • Leber congenital amaurosis 211 tests
  • Leber congenital amaurosis 36 tests
  • Leber congenital amaurosis 47 tests
  • Leber congenital amaurosis 510 tests
  • Leber congenital amaurosis 67 tests
  • Leber congenital amaurosis 77 tests
  • Leber congenital amaurosis 810 tests
  • Leber congenital amaurosis 95 tests
  • Left anterior fascicular block2 tests
  • Left ventricular hypertrophy3 tests
  • Left ventricular noncompaction7 tests
  • Left ventricular noncompaction 19 tests
  • Left ventricular noncompaction 109 tests
  • Left ventricular noncompaction cardiomyopathy6 tests
  • Left-right axis malformations5 tests
  • Leg muscle stiffness5 tests
  • Legg-Calve-Perthes disease21 tests
  • Legionnaire disease, susceptibility to2 tests
  • Legius syndrome10 tests
  • Leigh syndrome48 tests
  • Leigh syndrome due to mitochondrial complex III deficiency1 test
  • Lens subluxation7 tests
  • LEOPARD syndrome 113 tests
  • LEOPARD syndrome 29 tests
  • LEOPARD syndrome 316 tests
  • Leprechaunism syndrome12 tests
  • Leprosy, susceptibility to, 32 tests
  • Leprosy, susceptibility to, 41 test
  • Leprosy, susceptibility to, 52 tests
  • Lesch-Nyhan syndrome6 tests
  • Lethal acantholytic epidermolysis bullosa12 tests
  • Lethal arthrogryposis-anterior horn cell disease syndrome8 tests
  • Lethal congenital contracture syndrome 18 tests
  • Lethal congenital contracture syndrome 22 tests
  • Lethal congenital contracture syndrome 32 tests
  • Lethal congenital contracture syndrome 44 tests
  • Lethal congenital glycogen storage disease of heart14 tests
  • Lethal Kniest-like syndrome6 tests
  • Lethal multiple pterygium syndrome11 tests
  • Lethal occipital encephalocele-skeletal dysplasia syndrome3 tests
  • Lethal osteosclerotic bone dysplasia6 tests
  • Lethal polymalformative syndrome, Boissel type3 tests
  • Lethal tight skin contracture syndrome26 tests
  • Lethargy7 tests
  • Leucine-induced hypoglycemia19 tests
  • Leukemia10 tests
  • Leukemia, acute lymphoblastic, susceptibility to3 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 32 tests
  • Leukemia, post-chemotherapy, susceptibility to2 tests
  • Leukocoria4 tests
  • Leukocyte adhesion deficiency 15 tests
  • Leukocyte adhesion deficiency 36 tests
  • Leukocyte adhesion deficiency type II8 tests
  • Leukodystrophy22 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome9 tests
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema10 tests
  • Leukoencephalopathy, progressive, with ovarian failure4 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome7 tests
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome6 tests
  • Leukonychia totalis2 tests
  • Leukopenia19 tests
  • Levy-Hollister syndrome22 tests
  • Lewy bodies1 test
  • Lewy body dementia20 tests
  • Leydig cell adenoma, somatic, with male-limited precocious puberty1 test
  • Leydig cell agenesis8 tests
  • Leydig cell hypoplasia, type II1 test
  • Li-Fraumeni syndrome 127 tests
  • Li-Fraumeni syndrome 215 tests
  • Lichtenstein-Knorr syndrome1 test
  • Liddle syndrome 18 tests
  • Limb ataxia14 tests
  • Limb dysmetria4 tests
  • Limb dystonia10 tests
  • Limb hypertonia9 tests
  • Limb muscle weakness2 tests
  • Limb undergrowth6 tests
  • Limb-girdle muscle weakness4 tests
  • Limb-girdle muscular dystrophy11 tests
  • Limb-mammary syndrome6 tests
  • Limitation of joint mobility33 tests
  • Limited elbow extension2 tests
  • Linear nevus sebaceous syndrome19 tests
  • Linear skin defects with multiple congenital anomalies 18 tests
  • Lip pit4 tests
  • Lipase deficiency, combined3 tests
  • LIPE-related familial partial lipodystrophy2 tests
  • Lipid proteinosis3 tests
  • Lipoatrophy11 tests
  • Lipodystrophy1 test
  • Lipoic acid synthetase deficiency8 tests
  • Lipoprotein glomerulopathy6 tests
  • Lissencephaly9 tests
  • Lissencephaly 47 tests
  • Lissencephaly due to LIS1 mutation10 tests
  • Lissencephaly due to TUBA1A mutation10 tests
  • Lissencephaly type 1 due to doublecortin gene mutation12 tests
  • Liver failure26 tests
  • Lobulated tongue9 tests
  • Loeys-Dietz syndrome 29 tests
  • Loeys-Dietz syndrome 46 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency15 tests
  • Long eyelashes11 tests
  • Long face24 tests
  • Long fingers2 tests
  • Long foot2 tests
  • Long nose5 tests
  • Long palm2 tests
  • Long palpebral fissure9 tests
  • Long penis11 tests
  • Long philtrum42 tests
  • Long QT syndrome88 tests
  • Long QT syndrome 116 tests
  • Long QT syndrome 109 tests
  • Long QT syndrome 118 tests
  • Long QT syndrome 128 tests
  • Long QT syndrome 138 tests
  • Long QT syndrome 213 tests
  • Long QT syndrome 318 tests
  • Long QT syndrome 513 tests
  • Long QT syndrome 610 tests
  • Long QT syndrome 919 tests
  • Long toe4 tests
  • Loricrin keratoderma3 tests
  • Low anterior hairline21 tests
  • Low back pain3 tests
  • Low density lipoprotein cholesterol level quantitative trait locus 62 tests
  • Low hanging columella3 tests
  • Low phospholipid associated cholelithiasis5 tests
  • Low posterior hairline19 tests
  • Low-set ears67 tests
  • Low-set, posteriorly rotated ears63 tests
  • Lowe syndrome11 tests
  • Lower eyelid coloboma3 tests
  • Lower limb hyperreflexia2 tests
  • Lower limb muscle weakness9 tests
  • Lower limb spasticity3 tests
  • Lucey-Driscoll syndrome18 tests
  • LuLu phenotype2 tests
  • Lumbar hyperlordosis2 tests
  • Lumbar scoliosis3 tests
  • Lumbosacral myelomeningocele1 test
  • Lung adenocarcinoma17 tests
  • Lung carcinoma40 tests
  • Luteinizing hormone resistance, female1 test
  • Lymphadenopathy24 tests
  • Lymphangioma4 tests
  • Lymphangiomyomatosis20 tests
  • Lymphatic malformation 36 tests
  • Lymphedema23 tests
  • Lymphedema-posterior choanal atresia syndrome2 tests
  • Lymphoma29 tests
  • Lymphopenia16 tests
  • Lymphoproliferative disorder8 tests
  • Lymphoproliferative syndrome 14 tests
  • Lymphoproliferative syndrome 24 tests
  • Lynch syndrome6 tests
  • Lynch syndrome 123 tests
  • Lynch syndrome 423 tests
  • Lynch syndrome 522 tests
  • Lynch syndrome 821 tests
  • Lysinuric protein intolerance12 tests
  • Lysosomal acid lipase deficiency9 tests
  • Macrocephaly61 tests
  • Macrocephaly, macrosomia, facial dysmorphism syndrome2 tests
  • Macrocephaly-autism syndrome25 tests
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome6 tests
  • Macrocytic anemia8 tests
  • Macrodactyly of finger1 test
  • Macrodontia of permanent maxillary central incisor1 test
  • Macroglobulinemia, Waldenstrom, 14 tests
  • Macroglossia11 tests
  • Macronodular adrenal hyperplasia3 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss12 tests
  • Macrothrombocytopenia, isolated, 1, autosomal dominant4 tests
  • Macrotia27 tests
  • Macular atrophy7 tests
  • Macular corneal dystrophy4 tests
  • Macular degeneration1 test
  • Macular degeneration, age-related, 36 tests
  • Macular degeneration, X-linked atrophic9 tests
  • Macular dystrophy3 tests
  • Madelung deformity3 tests
  • Majeed syndrome5 tests
  • Major affective disorder 72 tests
  • Major depressive disorder8 tests
  • Malabsorption26 tests
  • Malan overgrowth syndrome3 tests
  • Malar flattening59 tests
  • Malaria, mild, susceptibility to1 test
  • Malaria, susceptibility to40 tests
  • Male hypogonadism5 tests
  • Male infertility10 tests
  • Male pseudohermaphroditism12 tests
  • Malformation of the heart and great vessels38 tests
  • Malignant hyperthermia, susceptibility to, 14 tests
  • Malignant hyperthermia, susceptibility to, 510 tests
  • Malignant melanoma of skin6 tests
  • Malignant tumor of esophagus11 tests
  • Malignant tumor of prostate311 tests
  • Malignant tumor of testis38 tests
  • Malignant tumor of thyroid gland9 tests
  • Malignant tumor of urinary bladder38 tests
  • Malnutrition1 test
  • Mandibular condyle aplasia2 tests
  • Mandibular condyle hypoplasia2 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome8 tests
  • Mandibular prognathia14 tests
  • Mandibuloacral dysplasia with type A lipodystrophy24 tests
  • Mandibuloacral dysplasia with type B lipodystrophy7 tests
  • Mandibulofacial dysostosis-microcephaly syndrome6 tests
  • Mannose-binding lectin deficiency4 tests
  • Mantle cell lymphoma1 test
  • Maple syrup urine disease16 tests
  • Marden-Walker syndrome4 tests
  • Marfan syndrome14 tests
  • Marinesco-Sjögren syndrome9 tests
  • Marked Hypotonia1 test
  • Marshall syndrome10 tests
  • Marshall-Smith syndrome3 tests
  • Martsolf syndrome7 tests
  • MASA syndrome11 tests
  • Mask-like facies2 tests
  • MASS syndrome14 tests
  • Mast syndrome3 tests
  • Mastocytosis6 tests
  • Maternal riboflavin deficiency2 tests
  • Matthew-Wood syndrome5 tests
  • Maturity onset diabetes mellitus in young5 tests
  • Maturity-onset diabetes of the young type 19 tests
  • Maturity-onset diabetes of the young type 106 tests
  • Maturity-onset diabetes of the young type 114 tests
  • Maturity-onset diabetes of the young type 210 tests
  • Maturity-onset diabetes of the young type 37 tests
  • Maturity-onset diabetes of the young type 48 tests
  • Maturity-onset diabetes of the young type 68 tests
  • Maturity-onset diabetes of the young type 85 tests
  • Maturity-onset diabetes of the young type 94 tests
  • McCune-Albright syndrome11 tests
  • McKusick-Kaufman syndrome12 tests
  • McLeod neuroacanthocytosis syndrome4 tests
  • Meacham syndrome11 tests
  • Meckel diverticulum1 test
  • Meckel syndrome, type 118 tests
  • Meckel syndrome, type 106 tests
  • Meckel syndrome, type 219 tests
  • Meckel syndrome, type 315 tests
  • Meckel syndrome, type 426 tests
  • Meckel syndrome, type 520 tests
  • Meckel syndrome, type 619 tests
  • Meckel syndrome, type 89 tests
  • Meckel syndrome, type 99 tests
  • Meckel-Gruber syndrome3 tests
  • Meconium ileus3 tests
  • Medial flaring of the eyebrow7 tests
  • Median cleft lip10 tests
  • Mediastinal lymphadenopathy6 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency18 tests
  • MEDNIK syndrome4 tests
  • Medulloblastoma28 tests
  • Megacolon20 tests
  • Megaconial type congenital muscular dystrophy7 tests
  • Megacystis1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 115 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A7 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability7 tests
  • Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability1 test
  • Megalencephaly, autosomal dominant5 tests
  • Megalencephaly-capillary malformation-polymicrogyria syndrome7 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 19 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 211 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness8 tests
  • Megalocornea2 tests
  • MEGF10-Related Myopathy5 tests
  • Meier-Gorlin syndrome6 tests
  • Meier-Gorlin syndrome 25 tests
  • Meier-Gorlin syndrome 35 tests
  • Meier-Gorlin syndrome 45 tests
  • Meier-Gorlin syndrome 55 tests
  • Melanocytic nevus18 tests
  • Melanoma24 tests
  • Melanoma and neural system tumor syndrome5 tests
  • Melanoma, cutaneous malignant, susceptibility to, 125 tests
  • Melanoma, cutaneous malignant, susceptibility to, 25 tests
  • Melanoma, cutaneous malignant, susceptibility to, 35 tests
  • Melanoma, cutaneous malignant, susceptibility to, 55 tests
  • Melanoma, cutaneous malignant, susceptibility to, 62 tests
  • Melanoma, cutaneous malignant, susceptibility to, 812 tests
  • Melanoma, cutaneous malignant, susceptibility to, 910 tests
  • Melanoma-pancreatic cancer syndrome5 tests
  • Melioidosis, susceptibility to2 tests
  • Melnick-Needles syndrome24 tests
  • Melorheostosis4 tests
  • Membranous nephropathy4 tests
  • Memory impairment8 tests
  • Memory quantitative trait locus2 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency2 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency4 tests
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency4 tests
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency4 tests
  • Meningioma11 tests
  • Meningocele12 tests
  • Menkes kinky-hair syndrome11 tests
  • Menorrhagia1 test
  • Menstrual cycle-dependent periodic fever4 tests
  • Mental deterioration16 tests
  • Meretoja syndrome5 tests
  • Merosin deficient congenital muscular dystrophy18 tests
  • Mesangiocapillary glomerulonephritis6 tests
  • Mesomelia4 tests
  • Mesothelioma, malignant13 tests
  • Metabolic acidosis11 tests
  • Metabolic alkalosis3 tests
  • Metabolic myopathy due to lactate transporter defect7 tests
  • Metabolic syndrome X13 tests
  • Metachondromatosis13 tests
  • Metachromatic leukodystrophy13 tests
  • Metaphyseal anadysplasia 24 tests
  • Metaphyseal chondrodysplasia, Jansen type5 tests
  • Metaphyseal chondrodysplasia, McKusick type16 tests
  • Metaphyseal chondrodysplasia, Schmid type4 tests
  • Metaphyseal cupping4 tests
  • Metaphyseal cupping of metacarpals2 tests
  • Metaphyseal cupping of proximal phalanges2 tests
  • Metaphyseal dysplasia without hypotrichosis16 tests
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome5 tests
  • Metaphyseal irregularity2 tests
  • Metaphyseal widening2 tests
  • Metatarsus adductus7 tests
  • Metatropic dysplasia11 tests
  • Methemoglobinemia type 43 tests
  • Methylcobalamin deficiency type cblE9 tests
  • Methylcobalamin deficiency type cblG6 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency5 tests
  • Methylmalonic acidemia7 tests
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency6 tests
  • Methylmalonic acidemia due to transcobalamin receptor defect5 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ4 tests
  • Methylmalonic aciduria7 tests
  • Methylmalonic aciduria and homocystinuria type cblD13 tests
  • Methylmalonic aciduria and homocystinuria type cblF9 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency14 tests
  • Methylmalonic aciduria, cblA type12 tests
  • Methylmalonic aciduria, cblB type12 tests
  • Mevalonic aciduria7 tests
  • MGAT2-congenital disorder of glycosylation9 tests
  • MHC class I deficiency6 tests
  • MHC class II deficiency12 tests
  • Microcephalic osteodysplastic primordial dwarfism type II8 tests
  • Microcephalic primordial dwarfism due to RTTN deficiency5 tests
  • Microcephalic primordial dwarfism due to ZNF335 deficiency3 tests
  • Microcephalic primordial dwarfism, Alazami type1 test
  • Microcephaly 1, primary, autosomal recessive5 tests
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations5 tests
  • Microcephaly 3, primary, autosomal recessive3 tests
  • Microcephaly 5, primary, autosomal recessive8 tests
  • Microcephaly 6, primary, autosomal recessive9 tests
  • Microcephaly 7, primary, autosomal recessive4 tests
  • Microcephaly 8, primary, autosomal recessive3 tests
  • Microcephaly 9, primary, autosomal recessive5 tests
  • Microcephaly and chorioretinopathy 15 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability5 tests
  • Microcephaly, epilepsy, and diabetes syndrome5 tests
  • Microcephaly, normal intelligence and immunodeficiency26 tests
  • Microcephaly, seizures, and developmental delay9 tests
  • Microcephaly-capillary malformation syndrome4 tests
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome4 tests
  • Microcephaly-thin corpus callosum-intellectual disability syndrome2 tests
  • Microcolon1 test
  • Microcornea22 tests
  • Microcornea-myopic chorioretinal atrophy4 tests
  • Microcytic anemia5 tests
  • Microcytic anemia with liver iron overload3 tests
  • Microdontia8 tests
  • Micrognathia101 tests
  • Micromelia19 tests
  • Micronodular cirrhosis4 tests
  • Micropenis34 tests
  • Microphthalmia35 tests
  • Microphthalmia with brain and digit anomalies7 tests
  • Microphthalmia with limb anomalies5 tests
  • Microphthalmia, isolated, with coloboma 310 tests
  • Microphthalmia, isolated, with coloboma 58 tests
  • Microphthalmia, isolated, with coloboma 66 tests
  • Microphthalmia, isolated, with coloboma 75 tests
  • Microphthalmia, syndromic 112 tests
  • Microphthalmia, syndromic 114 tests
  • Microretrognathia6 tests
  • Microspherophakia6 tests
  • Microtia13 tests
  • Microvascular complications of diabetes, susceptibility to, 13 tests
  • Microvascular complications of diabetes, susceptibility to, 22 tests
  • Microvascular complications of diabetes, susceptibility to, 35 tests
  • Microvascular complications of diabetes, susceptibility to, 44 tests
  • Microvascular complications of diabetes, susceptibility to, 52 tests
  • Microvascular complications of diabetes, susceptibility to, 64 tests
  • Microvascular complications of diabetes, susceptibility to, 78 tests
  • Microvesicular hepatic steatosis4 tests
  • Midface capillary hemangioma9 tests
  • Midface retrusion27 tests
  • Midline defect of the nose1 test
  • Midline facial cleft3 tests
  • Migraine18 tests
  • Migraine, familial hemiplegic, 117 tests
  • Migraine, familial hemiplegic, 29 tests
  • Migraine, familial hemiplegic, 314 tests
  • Migraine, with or without aura, susceptibility to, 132 tests
  • Mild Canavan disease1 test
  • Mild short stature5 tests
  • Mildly elevated creatine kinase4 tests
  • Miller syndrome4 tests
  • Mirror movements 12 tests
  • Mirror movements 22 tests
  • Miscarriage8 tests
  • Mitochondrial complex I deficiency40 tests
  • Mitochondrial complex II deficiency, nuclear type 118 tests
  • Mitochondrial complex III deficiency nuclear type 122 tests
  • Mitochondrial complex III deficiency nuclear type 26 tests
  • Mitochondrial complex III deficiency nuclear type 37 tests
  • Mitochondrial complex III deficiency nuclear type 46 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 213 tests
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 17 tests
  • Mitochondrial DNA depletion syndrome 131 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive9 tests
  • Mitochondrial DNA depletion syndrome 39 tests
  • Mitochondrial DNA depletion syndrome 4b29 tests
  • Mitochondrial DNA depletion syndrome 8a14 tests
  • Mitochondrial DNA depletion syndrome 912 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria11 tests
  • Mitochondrial DNA depletion syndrome, myopathic form11 tests
  • Mitochondrial encephalomyopathy10 tests
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency7 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
  • Mitochondrial pyruvate carrier deficiency4 tests
  • Mitochondrial respiratory chain defects9 tests
  • Mitochondrial trifunctional protein deficiency16 tests
  • Mitral regurgitation7 tests
  • Mitral stenosis7 tests
  • Mitral valve prolapse6 tests
  • Miyoshi muscular dystrophy 111 tests
  • Miyoshi muscular dystrophy 310 tests
  • Moderate sensorineural hearing impairment1 test
  • Moderately reduced visual acuity3 tests
  • MOGS-congenital disorder of glycosylation8 tests
  • Molar tooth sign on MRI13 tests
  • Monocytopenia with susceptibility to infections8 tests
  • Monocytosis8 tests
  • Mood swings2 tests
  • Morbid obesity1 test
  • MORM syndrome8 tests
  • Mosaic variegated aneuploidy syndrome 18 tests
  • Mosaic variegated aneuploidy syndrome 23 tests
  • Motor axonal neuropathy4 tests
  • Motor delay54 tests
  • Motor stereotypy8 tests
  • Movement disorder9 tests
  • Mowat-Wilson syndrome11 tests
  • Moyamoya disease1 test
  • Moyamoya disease 23 tests
  • Moyamoya disease 57 tests
  • MPDU1-congenital disorder of glycosylation7 tests
  • MPI-congenital disorder of glycosylation11 tests
  • Mucolipidosis type II10 tests
  • Mucolipidosis type III gamma13 tests
  • Mucolipidosis type IV14 tests
  • Mucopolysaccharidosis9 tests
  • Mucopolysaccharidosis type 613 tests
  • Mucopolysaccharidosis type 710 tests
  • Mucopolysaccharidosis, MPS-I-H/S13 tests
  • Mucopolysaccharidosis, MPS-I-S13 tests
  • Mucopolysaccharidosis, MPS-II12 tests
  • Mucopolysaccharidosis, MPS-III-A11 tests
  • Mucopolysaccharidosis, MPS-III-B12 tests
  • Mucopolysaccharidosis, MPS-III-C15 tests
  • Mucopolysaccharidosis, MPS-III-D12 tests
  • Mucopolysaccharidosis, MPS-IV-A10 tests
  • Mucopolysaccharidosis, MPS-IV-B15 tests
  • Mucosal telangiectasiae5 tests
  • Muenke syndrome17 tests
  • Muir-Torré syndrome23 tests
  • Mulibrey nanism syndrome2 tests
  • Mullerian aplasia and hyperandrogenism7 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy5 tests
  • Multicentric osteolysis nodulosis arthropathy spectrum5 tests
  • Multicystic kidney dysplasia23 tests
  • Multiple acyl-CoA dehydrogenase deficiency21 tests
  • Multiple congenital anomalies61 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome1 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 12 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 27 tests
  • Multiple congenital exostosis7 tests
  • Multiple cutaneous and mucosal venous malformations3 tests
  • Multiple endocrine neoplasia1 test
  • Multiple endocrine neoplasia type 44 tests
  • Multiple endocrine neoplasia, type 19 tests
  • Multiple endocrine neoplasia, type 2a13 tests
  • Multiple endocrine neoplasia, type 2b13 tests
  • Multiple epiphyseal dysplasia type 15 tests
  • Multiple epiphyseal dysplasia type 410 tests
  • Multiple epiphyseal dysplasia type 54 tests
  • Multiple epiphyseal dysplasia, Beighton type20 tests
  • Multiple Epiphyseal Dysplasia, Dominant4 tests
  • Multiple fibroadenoma of the breast2 tests
  • Multiple fibrofolliculomas8 tests
  • Multiple gastrointestinal atresias6 tests
  • Multiple joint contractures3 tests
  • Multiple lipomas4 tests
  • Multiple mitochondrial dysfunctions syndrome 14 tests
  • Multiple mitochondrial dysfunctions syndrome 27 tests
  • Multiple myeloma10 tests
  • Multiple prenatal fractures8 tests
  • Multiple sclerosis modifier of disease progression2 tests
  • Multiple sclerosis, susceptibility to, 55 tests
  • Multiple self-healing squamous epithelioma8 tests
  • Multiple skeletal anomalies3 tests
  • Multiple sulfatase deficiency16 tests
  • Multiple synostoses syndrome 24 tests
  • Multiple synostoses syndrome 32 tests
  • Multiple system atrophy14 tests
  • Multisystemic smooth muscle dysfunction syndrome8 tests
  • Muscle AMP deaminase deficiency6 tests
  • Muscle eye brain disease21 tests
  • Muscle fiber atrophy3 tests
  • Muscle fiber inclusion bodies2 tests
  • Muscle spasm13 tests
  • Muscle stiffness7 tests
  • Muscle weakness66 tests
  • Muscular atrophy58 tests
  • Muscular dystrophy15 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 428 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 711 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 86 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A215 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A523 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B117 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B215 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B321 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B428 tests
  • Muscular dystrophy-dystroglycanopathy type B523 tests
  • Mutilating keratoderma13 tests
  • Mutism6 tests
  • Myalgia14 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel11 tests
  • Myasthenic syndrome, slow-channel congenital12 tests
  • Mycobacterium tuberculosis, susceptibility to16 tests
  • Myelodysplasia9 tests
  • Myelodysplastic syndrome11 tests
  • Myeloperoxidase deficiency4 tests
  • Myeloproliferative disorder2 tests
  • Myeloproliferative disorder, chronic, with eosinophilia2 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy14 tests
  • MYH7-related skeletal myopathy14 tests
  • Myhre syndrome18 tests
  • Myocardial infarction5 tests
  • Myocardial infarction 121 tests
  • Myoclonic dystonia 116 tests
  • Myoclonus25 tests
  • Myoclonus, familial, 14 tests
  • Myofibrillar myopathy5 tests
  • Myofibrillar myopathy 39 tests
  • Myofibrillar myopathy 417 tests
  • Myofibrillar myopathy 513 tests
  • Myofibrillar myopathy 69 tests
  • Myofibromatosis, infantile, 213 tests
  • Myoglobinuria, acute recurrent, autosomal recessive5 tests
  • Myokymia6 tests
  • Myopathic facies8 tests
  • Myopathy38 tests
  • Myopathy, centronuclear, 26 tests
  • Myopathy, centronuclear, 33 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 110 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 26 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure19 tests
  • Myopathy, proximal, and ophthalmoplegia6 tests
  • Myopathy, reducing body, X-linked, childhood-onset11 tests
  • Myopathy, reducing body, X-linked, early-onset, severe11 tests
  • Myopathy, tubular aggregate, 18 tests
  • Myopathy, tubular aggregate, 25 tests
  • Myopia51 tests
  • Myopia 21, autosomal dominant2 tests
  • Myopia 23, autosomal recessive1 test
  • Myopia 610 tests
  • Myosclerosis7 tests
  • Myosin storage myopathy14 tests
  • Myositis3 tests
  • Myostatin-related muscle hypertrophy4 tests
  • Myotonia7 tests
  • Myotonic dystrophy type 23 tests
  • Myxoid liposarcoma1 test
  • Naegeli-Franceschetti-Jadassohn syndrome3 tests
  • Nager syndrome3 tests
  • Nail dysplasia4 tests
  • Nail dystrophy15 tests
  • Nail-patella syndrome8 tests
  • Namaqualand hip dysplasia20 tests
  • Nance-Horan syndrome8 tests
  • Nanophthalmos 27 tests
  • Narcolepsy 12 tests
  • Narcolepsy 71 test
  • Narrow chest20 tests
  • Narrow face24 tests
  • Narrow forehead37 tests
  • Narrow greater sciatic notch2 tests
  • Narrow iliac wing1 test
  • Narrow mouth19 tests
  • Narrow naris9 tests
  • Narrow nasal ridge14 tests
  • Narrow nose2 tests
  • Narrow palate4 tests
  • Narrow palm2 tests
  • Nasal polyposis11 tests
  • Nasal speech7 tests
  • Natal tooth2 tests
  • Nausea5 tests
  • Nausea and vomiting21 tests
  • Navajo neurohepatopathy12 tests
  • Naxos disease9 tests
  • NDE1-related microhydranencephaly7 tests
  • Neck muscle weakness8 tests
  • Nemaline bodies5 tests
  • Nemaline myopathy7 tests
  • Nemaline myopathy 17 tests
  • Nemaline myopathy 213 tests
  • Nemaline myopathy 48 tests
  • Nemaline myopathy 56 tests
  • Nemaline myopathy 65 tests
  • Nemaline myopathy 76 tests
  • Neonatal acute respiratory distress due to SP-B deficiency4 tests
  • Neonatal breathing dysregulation8 tests
  • Neonatal death1 test
  • Neonatal diabetes mellitus with congenital hypothyroidism4 tests
  • Neonatal hypotonia17 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome4 tests
  • Neonatal intrahepatic cholestasis due to citrin deficiency11 tests
  • Neonatal respiratory distress6 tests
  • Neonatal sepsis6 tests
  • Neonatal severe primary hyperparathyroidism14 tests
  • Neonatal-onset encephalopathy with rigidity and seizures4 tests
  • Neoplasm17 tests
  • Neoplasm of esophagus9 tests
  • Neoplasm of lung4 tests
  • Neoplasm of ovary38 tests
  • Neoplasm of stomach57 tests
  • Neoplasm of the anterior pituitary2 tests
  • Neoplasm of the endocrine system1 test
  • Neoplasm of the gastrointestinal tract2 tests
  • Neoplasm of the nervous system7 tests
  • Neoplasm of the pancreas25 tests
  • Neoplasm of the skeletal system2 tests
  • Neoplasm of the skin6 tests
  • Neoplasm of the small intestine3 tests
  • Neoplasm of uterus4 tests
  • Nephroblastoma44 tests
  • Nephrocalcinosis17 tests
  • Nephrogenic syndrome of inappropriate antidiuresis3 tests
  • Nephrolithiasis8 tests
  • Nephrolithiasis susceptibility caused by SLC26A15 tests
  • Nephrolithiasis, uric acid, susceptibility to2 tests
  • Nephronophthisis19 tests
  • Nephronophthisis 118 tests
  • Nephronophthisis 1115 tests
  • Nephronophthisis 1212 tests
  • Nephronophthisis 314 tests
  • Nephronophthisis 410 tests
  • Nephronophthisis 75 tests
  • Nephronophthisis 97 tests
  • Nephronophthisis-like nephropathy 15 tests
  • Nephropathic cystinosis11 tests
  • Nephrotic syndrome28 tests
  • Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome5 tests
  • Nephrotic syndrome, type 211 tests
  • Nephrotic syndrome, type 34 tests
  • Nephrotic syndrome, type 417 tests
  • Nephrotic syndrome, type 63 tests
  • Nestor-Guillermo progeria syndrome2 tests
  • Netherton syndrome7 tests
  • Neu-Laxova syndrome14 tests
  • Neural tube defect9 tests
  • Neural tube defects, folate-sensitive18 tests
  • Neuroblastoma8 tests
  • Neuroblastoma, susceptibility to, 26 tests
  • Neuroblastoma, susceptibility to, 34 tests
  • Neurocirculatory asthenia3 tests
  • Neurocutaneous melanocytosis8 tests
  • Neurodegeneration9 tests
  • Neurodegeneration with brain iron accumulation 2B13 tests
  • Neurodegeneration with brain iron accumulation 47 tests
  • Neurodegeneration with brain iron accumulation 57 tests
  • Neurodegeration2 tests
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities5 tests
  • Neuroferritinopathy7 tests
  • Neurofibromatosis, familial spinal23 tests
  • Neurofibromatosis, type 123 tests
  • Neurofibromatosis, type 29 tests
  • Neurofibromatosis-Noonan syndrome23 tests
  • Neurogenic bladder1 test
  • Neurogenic scapuloperoneal syndrome, Kaeser type15 tests
  • Neurohypophyseal diabetes insipidus3 tests
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset2 tests
  • Neurological speech impairment60 tests
  • Neuronal ceroid lipofuscinosis9 tests
  • Neuronal ceroid lipofuscinosis 119 tests
  • Neuronal ceroid lipofuscinosis 1011 tests
  • Neuronal ceroid lipofuscinosis 1112 tests
  • Neuronal ceroid lipofuscinosis 219 tests
  • Neuronal ceroid lipofuscinosis 319 tests
  • Neuronal ceroid lipofuscinosis 518 tests
  • Neuronal ceroid lipofuscinosis 717 tests
  • Neuronal ceroid lipofuscinosis 817 tests
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant17 tests
  • Neuronal loss in central nervous system11 tests
  • Neuronopathy, distal hereditary motor3 tests
  • Neuronopathy, distal hereditary motor, type 2A7 tests
  • Neuronopathy, distal hereditary motor, type 2B7 tests
  • Neuronopathy, distal hereditary motor, type 2C3 tests
  • Neuronopathy, distal hereditary motor, type 5A19 tests
  • Neuronopathy, distal hereditary motor, type 5B9 tests
  • Neuronopathy, distal hereditary motor, type 7A5 tests
  • Neuronopathy, distal hereditary motor, type 7B7 tests
  • Neuropathic spinal arthropathy5 tests
  • Neuropathy, hereditary sensory and autonomic, type 1C6 tests
  • Neuropathy, hereditary sensory and autonomic, type 2A6 tests
  • Neuropathy, hereditary sensory, type 1D10 tests
  • Neuropathy, hereditary sensory, type 2C8 tests
  • Neutral 1 amino acid transport defect4 tests
  • Neutral lipid storage myopathy8 tests
  • Neutropenia38 tests
  • Neutropenia, severe congenital, 1, autosomal dominant6 tests
  • Neutropenia, severe congenital, 2, autosomal dominant5 tests
  • Neutrophil immunodeficiency syndrome7 tests
  • Nevus sebaceous8 tests
  • Newfoundland cone-rod dystrophy8 tests
  • Nicolaides-Baraitser syndrome9 tests
  • Niemann-Pick disease, type A14 tests
  • Niemann-Pick disease, type B14 tests
  • Niemann-Pick disease, type C114 tests
  • Niemann-Pick disease, type C214 tests
  • Night blindness18 tests
  • Nijmegen breakage syndrome-like disorder9 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities13 tests
  • Non-Hodgkin lymphoma7 tests
  • Non-immune hydrops fetalis11 tests
  • Non-ketotic hyperglycinemia17 tests
  • Non-midline cleft lip12 tests
  • Non-small cell lung carcinoma19 tests
  • Non-syndromic X-linked intellectual disability4 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to12 tests
  • Nonimmune chronic idiopathic neutropenia of adults5 tests
  • Nonpapillary renal cell carcinoma34 tests
  • Nonpersistence of intestinal lactase2 tests
  • Nonprogressive cerebellar ataxia6 tests
  • Nonprogressive cerebellar atxia with intellectual disability5 tests
  • Nonprogressive encephalopathy3 tests
  • Nonsyndromic congenital nail disorder 13 tests
  • Nonsyndromic congenital nail disorder 87 tests
  • Nonsyndromic Deafness5 tests
  • Nonsyndromic microcephaly165 tests
  • Nonsyndromic otitis media6 tests
  • Noonan syndrome11 tests
  • Noonan syndrome 113 tests
  • Noonan syndrome 313 tests
  • Noonan syndrome 410 tests
  • Noonan syndrome 59 tests
  • Noonan syndrome 716 tests
  • Noonan syndrome-like disorder with loose anagen hair 110 tests
  • Noonan-like facies2 tests
  • Norman-Roberts syndrome10 tests
  • Normocytic anemia2 tests
  • Normophosphatemic familial tumoral calcinosis3 tests
  • Novelty seeking personality trait4 tests
  • NPHP3-related Meckel-like syndrome14 tests
  • Numerous congenital melanocytic nevi8 tests
  • Numerous nevi8 tests
  • Nystagmus120 tests
  • Nystagmus 1, congenital, X-linked4 tests
  • Nystagmus 6, congenital, X-linked5 tests
  • Obesity71 tests
  • OBESITY (BMIQ12), SUSCEPTIBILITY TO3 tests
  • Obesity due to congenital leptin deficiency4 tests
  • Obesity due to leptin receptor gene deficiency4 tests
  • Obesity due to pro-opiomelanocortin deficiency5 tests
  • Obesity due to prohormone convertase I deficiency3 tests
  • Obesity, hyperphagia, and developmental delay3 tests
  • Obsessive-compulsive behavior6 tests
  • Obsessive-compulsive disorder11 tests
  • Obstructive sleep apnea syndrome6 tests
  • Occipital myelomeningocele8 tests
  • Occipital pachygyria and polymicrogyria6 tests
  • Occult macular dystrophy5 tests
  • Ocular albinism3 tests
  • Ocular albinism with congenital sensorineural hearing loss13 tests
  • Ocular albinism, type I5 tests
  • Ocular albinism, type II7 tests
  • Ocular cystinosis10 tests
  • Oculoauricular syndrome5 tests
  • Oculocerebrofacial syndrome, Kaufman type2 tests
  • Oculocutaneous albinism type 1B7 tests
  • Oculocutaneous albinism type 33 tests
  • Oculocutaneous albinism type 45 tests
  • Oculodentodigital dysplasia10 tests
  • Oculodentodigital dysplasia, autosomal recessive10 tests
  • Oculofaciocardiodental syndrome11 tests
  • Oculomaxillofacial dysostosis3 tests
  • Oculomotor apraxia15 tests
  • Oculootoradial syndrome6 tests
  • Oculopharyngeal muscular dystrophy5 tests
  • Oculotrichoanal syndrome8 tests
  • Odonto-onycho-dermal dysplasia6 tests
  • Odontoid hypoplasia2 tests
  • Ogden syndrome6 tests
  • Oguchi disease6 tests
  • Oguchi disease-25 tests
  • Okt4 epitope deficiency2 tests
  • Oligodontia1 test
  • Oligodontia-cancer predisposition syndrome6 tests
  • Oligohydramnios19 tests
  • Oligomenorrhea1 test
  • Oligospermia3 tests
  • Olivopontocerebellar hypoplasia1 test
  • Olmsted syndrome 13 tests
  • Olmsted syndrome, X-linked4 tests
  • Onion bulb formation8 tests
  • Onychomycosis2 tests
  • Opacification of the corneal stroma33 tests
  • Open mouth22 tests
  • Ophthalmoparesis21 tests
  • Ophthalmoplegia20 tests
  • Opisthotonus3 tests
  • Opsismodysplasia1 test
  • Optic atrophy82 tests
  • Optic atrophy 318 tests
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy14 tests
  • Optic disc drusen1 test
  • Optic disc pallor20 tests
  • Optic nerve dysplasia4 tests
  • Optic nerve hypoplasia7 tests
  • Oral cleft24 tests
  • Orbital craniosynostosis3 tests
  • Organic aciduria11 tests
  • Ornithine aminotransferase deficiency12 tests
  • Ornithine carbamoyltransferase deficiency12 tests
  • Orofacial cleft 101 test
  • Orofacial cleft 117 tests
  • Orofacial cleft 53 tests
  • Orofacial cleft 6, susceptibility to6 tests
  • Orofacial dyskinesia2 tests
  • Orofacial-digital syndrome IV7 tests
  • Orofaciodigital syndrome2 tests
  • Orofaciodigital syndrome I24 tests
  • Orofaciodigital syndrome type 141 test
  • Oromandibular dystonia6 tests
  • Orotic aciduria2 tests
  • Orthokeratosis3 tests
  • Osteoarthritis10 tests
  • Osteoarthritis of distal interphalangeal joint4 tests
  • Osteoarthritis susceptibility 32 tests
  • Osteoarthritis, hip4 tests
  • Osteochondritis dissecans4 tests
  • Osteocraniostenosis3 tests
  • Osteodysplastic primordial dwarfism, type 14 tests
  • Osteogenesis imperfecta10 tests
  • Osteogenesis imperfecta type 106 tests
  • Osteogenesis imperfecta type 117 tests
  • Osteogenesis imperfecta type 126 tests
  • Osteogenesis imperfecta type 136 tests
  • Osteogenesis imperfecta type 56 tests
  • Osteogenesis imperfecta type 66 tests
  • Osteogenesis imperfecta type 78 tests
  • Osteogenesis imperfecta type 96 tests
  • Osteogenesis imperfecta type I9 tests
  • Osteogenesis imperfecta type III10 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form10 tests
  • Osteogenesis imperfecta, recessive perinatal lethal10 tests
  • Osteoglophonic dysplasia15 tests
  • Osteolysis8 tests
  • Osteolysis involving bones of the feet3 tests
  • Osteolysis involving bones of the upper limbs3 tests
  • Osteomyelitis1 test
  • Osteomyelitis leading to amputation due to slow healing fractures2 tests
  • Osteopathia striata with cranial sclerosis3 tests
  • Osteopenia35 tests
  • Osteopetrosis with renal tubular acidosis5 tests
  • Osteoporosis with pseudoglioma10 tests
  • Otitis media15 tests
  • Oto-palato-digital syndrome, type I24 tests
  • Oto-palato-digital syndrome, type II24 tests
  • Otofaciocervical syndrome 110 tests
  • Otofaciocervical syndrome 22 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant13 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive24 tests
  • Ovarian dysgenesis 15 tests
  • Ovarian dysgenesis 24 tests
  • Ovarian dysgenesis 32 tests
  • Ovarian hyperstimulation syndrome5 tests
  • Overfolded helix5 tests
  • Overfolding of the superior helices2 tests
  • Overgrowth10 tests
  • Overlapping fingers5 tests
  • Overlapping toe1 test
  • Overriding aorta2 tests
  • Ovoid vertebral bodies4 tests
  • Oxycephaly4 tests
  • p phenotype2 tests
  • Pachygyria20 tests
  • Pachyonychia congenita 13 tests
  • Pachyonychia congenita 24 tests
  • Pachyonychia congenita 32 tests
  • Pachyonychia congenita 42 tests
  • Pain insensitivity2 tests
  • Pallister-Hall syndrome13 tests
  • Pallor7 tests
  • Palmoplantar hyperhidrosis1 test
  • Palmoplantar keratoderma33 tests
  • Palmoplantar keratoderma i, striate, focal, or diffuse2 tests
  • Palmoplantar keratoderma, Bothnian type2 tests
  • Palmoplantar keratoderma, nonepidermolytic, focal 13 tests
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse2 tests
  • Palmoplantar keratoderma-deafness syndrome13 tests
  • Palmoplantar keratoderma-esophageal carcinoma syndrome2 tests
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome4 tests
  • Palpebral edema8 tests
  • Pancreatic adenocarcinoma2 tests
  • Pancreatic agenesis 18 tests
  • Pancreatic agenesis 24 tests
  • Pancreatic cancer, susceptibility to, 223 tests
  • Pancreatic cancer, susceptibility to, 314 tests
  • Pancreatic cancer, susceptibility to, 419 tests
  • Pancreatic fibrosis3 tests
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome9 tests
  • Pancreatic insufficiency-anemia-hyperostosis syndrome4 tests
  • Pancreatitis5 tests
  • Pancytopenia14 tests
  • Panhypopituitarism, X-linked7 tests
  • Panic disorder 15 tests
  • Panniculitis4 tests
  • Pansynostosis3 tests
  • Papillary renal cell carcinoma2 tests
  • Papillary renal cell carcinoma type 121 tests
  • Papillary thyroid carcinoma14 tests
  • Papilledema3 tests
  • Papillon-Lefèvre syndrome5 tests
  • Papule1 test
  • Para-Bombay phenotype2 tests
  • Paragangliomas 19 tests
  • Paragangliomas 27 tests
  • Paragangliomas 39 tests
  • Paragangliomas 410 tests
  • Paragangliomas 516 tests
  • Parakeratosis3 tests
  • Paramyotonia congenita of Von Eulenburg12 tests
  • Parastremmatic dwarfism11 tests
  • Parathormone-independent increased renal tubular calcium reabsorption3 tests
  • Parathyroid carcinoma5 tests
  • Paresthesia4 tests
  • Parietal foramina 13 tests
  • Parietal foramina 25 tests
  • Parietal foramina with cleidocranial dysplasia3 tests
  • Parkes Weber syndrome9 tests
  • Parkinson disease33 tests
  • Parkinson disease 11, autosomal dominant, susceptibility to2 tests
  • Parkinson disease 13, autosomal dominant, susceptibility to4 tests
  • Parkinson disease 173 tests
  • Parkinson disease 18, autosomal dominant, susceptibility to3 tests
  • Parkinson disease 5, autosomal dominant, susceptibility to3 tests
  • Parkinsonian-pyramidal syndrome3 tests
  • Paroxysmal extreme pain disorder12 tests
  • Paroxysmal nocturnal hemoglobinuria8 tests
  • Paroxysmal nonkinesigenic dyskinesia8 tests
  • Partial agenesis of the corpus callosum3 tests
  • Partial albinism10 tests
  • Partial androgen insensitivity syndrome6 tests
  • Partial congenital absence of teeth5 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency6 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome9 tests
  • partial sensorineural deafness5 tests
  • Partington syndrome17 tests
  • Patchy osteosclerosis2 tests
  • Patellar aplasia12 tests
  • Patellar dislocation2 tests
  • Patellar subluxation1 test
  • Patent foramen ovale7 tests
  • Pathologic fracture2 tests
  • Patterned macular dystrophy 17 tests
  • PCWH syndrome10 tests
  • PDA132 tests
  • Pectus carinatum32 tests
  • Pectus excavatum43 tests
  • Peeling skin syndrome 13 tests
  • Peeling skin syndrome 42 tests
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome2 tests
  • Pelger-Huët anomaly5 tests
  • Pelizaeus-Merzbacher disease13 tests
  • Pelvic girdle muscle weakness4 tests
  • Pelviscapular dysplasia3 tests
  • Pendred syndrome19 tests
  • Pendular nystagmus4 tests
  • Peptic ulcer3 tests
  • Pericardial lymphangiectasia4 tests
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome4 tests
  • Periodontitis1 test
  • Periodontitis, aggressive 15 tests
  • Periorbital fullness11 tests
  • Peripheral arteriovenous fistula3 tests
  • Peripheral axonal neuropathy13 tests
  • Peripheral neuropathy16 tests
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome4 tests
  • Peripheral vitreoretinal degeneration5 tests
  • Periventricular gray matter heterotopia5 tests
  • Periventricular heterotopia with microcephaly, autosomal recessive7 tests
  • Periventricular nodular heterotopia4 tests
  • Perlman syndrome5 tests
  • Permanent neonatal diabetes mellitus24 tests
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome4 tests
  • Peroxisome biogenesis disorder 10A (Zellweger)12 tests
  • Peroxisome biogenesis disorder 11A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 11B9 tests
  • Peroxisome biogenesis disorder 12A (Zellweger)8 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)11 tests
  • Peroxisome biogenesis disorder 14B7 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)22 tests
  • Peroxisome biogenesis disorder 1B21 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)12 tests
  • Peroxisome biogenesis disorder 2B12 tests
  • Peroxisome biogenesis disorder 3A (Zellweger)16 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)16 tests
  • Peroxisome biogenesis disorder 4B16 tests
  • Peroxisome biogenesis disorder 5A (Zellweger)20 tests
  • Peroxisome biogenesis disorder 5B20 tests
  • Peroxisome biogenesis disorder 6A (Zellweger)15 tests
  • Peroxisome biogenesis disorder 6B15 tests
  • Peroxisome biogenesis disorder 7A (Zellweger)14 tests
  • Peroxisome biogenesis disorder 7B14 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 8B9 tests
  • Peroxisome biogenesis disorder 9B27 tests
  • Perrault syndrome15 tests
  • Perrault syndrome 27 tests
  • Perrault syndrome 46 tests
  • Perry syndrome7 tests
  • Persistent bleeding after trauma8 tests
  • Persistent hyperplastic primary vitreous4 tests
  • Persistent Mullerian duct syndrome5 tests
  • Persistent pupillary membrane4 tests
  • Personality changes6 tests
  • Personality disorder11 tests
  • Pes cavus38 tests
  • Pes planus12 tests
  • Petechiae6 tests
  • Peters plus syndrome5 tests
  • Pettigrew syndrome5 tests
  • Peutz-Jeghers syndrome17 tests
  • Pfeiffer syndrome19 tests
  • PGM1-congenital disorder of glycosylation8 tests
  • PHARC syndrome13 tests
  • Phelan-McDermid syndrome5 tests
  • Phenylketonuria15 tests
  • Pheochromocytoma33 tests
  • PHGDH deficiency14 tests
  • Phocomelia9 tests
  • Phosphate transport defect13 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic6 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial7 tests
  • Phosphohydroxylysinuria1 test
  • Phosphoribosylpyrophosphate synthetase superactivity16 tests
  • Photophobia20 tests
  • Phrynoderma1 test
  • Phthisis bulbi4 tests
  • Phytanic acid storage disease29 tests
  • Pick disease9 tests
  • Pierson syndrome5 tests
  • Pigmentary pallidal degeneration11 tests
  • Pigmentary retinal dystrophy12 tests
  • Pigmented nodular adrenocortical disease, primary, 112 tests
  • Pigmented nodular adrenocortical disease, primary, 22 tests
  • Pigmented nodular adrenocortical disease, primary, 32 tests
  • Pigmented nodular adrenocortical disease, primary, 41 test
  • Pigmented paravenous retinochoroidal atrophy10 tests
  • Pili torti-deafness syndrome19 tests
  • Pilomatrixoma12 tests
  • Pitt-Hopkins syndrome13 tests
  • Pitt-Hopkins-like syndrome 28 tests
  • Pituitary adenoma1 test
  • Pituitary dependent hypercortisolism3 tests
  • Pituitary hormone deficiency, combined, 18 tests
  • Pituitary hormone deficiency, combined, 212 tests
  • Pituitary hormone deficiency, combined, 68 tests
  • Pituitary hypothyroidism1 test
  • Pityriasis rubra pilaris5 tests
  • Plagiocephaly25 tests
  • Plasma fibronectin deficiency4 tests
  • Plasma triglyceride level quantitative trait locus2 tests
  • Plasminogen deficiency, type I8 tests
  • Platelet-activating factor acetylhydrolase deficiency2 tests
  • Platelet-type bleeding disorder 104 tests
  • Platelet-type bleeding disorder 115 tests
  • Platelet-type bleeding disorder 167 tests
  • Platelet-type bleeding disorder 174 tests
  • Platelet-type bleeding disorder 183 tests
  • Platelet-type bleeding disorder 84 tests
  • Platelet-type bleeding disorder 92 tests
  • Platyspondylic dysplasia, Torrance type20 tests
  • Platyspondyly13 tests
  • Pleural effusion1 test
  • Pleuropulmonary blastoma8 tests
  • PLIN1-related familial partial lipodystrophy3 tests
  • PMM2-congenital disorder of glycosylation24 tests
  • Pneumonia7 tests
  • Poikiloderma1 test
  • Poikiloderma with neutropenia6 tests
  • Pointed chin12 tests
  • Polyagglutinable erythrocyte syndrome2 tests
  • Polycystic kidney disease19 tests
  • Polycystic kidney disease 27 tests
  • Polycystic kidney disease, adult type6 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 17 tests
  • Polycystic liver disease 14 tests
  • Polycystic ovaries11 tests
  • Polydactyly10 tests
  • Polydactyly of a triphalangeal thumb3 tests
  • Polyendocrine-polyneuropathy syndrome1 test
  • Polyglandular autoimmune syndrome, type 18 tests
  • Polyglucosan body myopathy5 tests
  • Polyhydramnios38 tests
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy2 tests
  • Polymicrogyria12 tests
  • Polymicrogyria with optic nerve hypoplasia8 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive11 tests
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2 tests
  • Polymorphous corneal dystrophy4 tests
  • Polyposis syndrome, hereditary mixed, 29 tests
  • Polysubstance abuse, susceptibility to3 tests
  • Polysyndactyly 413 tests
  • Pontocerebellar hypoplasia type 1B10 tests
  • Pontocerebellar hypoplasia type 2A8 tests
  • Pontocerebellar hypoplasia type 2B8 tests
  • Pontocerebellar hypoplasia type 2C7 tests
  • Pontocerebellar hypoplasia type 2D9 tests
  • Pontocerebellar hypoplasia type 48 tests
  • Pontocerebellar hypoplasia type 615 tests
  • Pontoneocerebellar hypoplasia13 tests
  • Poor eye contact22 tests
  • Poor head control8 tests
  • Poor speech21 tests
  • Poor suck5 tests
  • Popliteal pterygium2 tests
  • Popliteal pterygium syndrome6 tests
  • Porencephalic cyst17 tests
  • Porencephaly 25 tests
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome4 tests
  • Porokeratosis 3, disseminated superficial actinic type8 tests
  • Porokeratosis of Mibelli3 tests
  • Porphobilinogen synthase deficiency4 tests
  • Porphyria cutanea tarda1 test
  • Portal hypertension9 tests
  • Portal vein thrombosis2 tests
  • Postanesthetic apnea5 tests
  • Postauricular skin tag2 tests
  • Postaxial foot polydactyly11 tests
  • Postaxial hand polydactyly24 tests
  • Postaxial polydactyly21 tests
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome9 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome7 tests
  • Posterior embryotoxon6 tests
  • Posterior plagiocephaly3 tests
  • Posterior polar cataract1 test
  • Posterior polymorphous corneal dystrophy 24 tests
  • Posterior polymorphous corneal dystrophy 34 tests
  • Posterior retinal neovascularization2 tests
  • Posterior rib cupping1 test
  • Posterior rib fusion3 tests
  • Posterior scalloping of vertebral bodies1 test
  • Posterior subcapsular cataract6 tests
  • Posterior synechiae of the anterior chamber4 tests
  • Posterior vitreous detachment5 tests
  • Posteriorly rotated ears27 tests
  • Postmenopausal osteoporosis37 tests
  • Postural instability3 tests
  • Postural tremor6 tests
  • Potassium-aggravated myotonia12 tests
  • Potocki-Shaffer syndrome1 test
  • PPARG-related familial partial lipodystrophy6 tests
  • Prader-Willi syndrome12 tests
  • Preauricular skin tag6 tests
  • Preaxial hand polydactyly11 tests
  • Preaxial polydactyly6 tests
  • Precocious puberty14 tests
  • Precocious puberty, central, 21 test
  • Predisposition to invasive fungal disease due to CARD9 deficiency3 tests
  • Preeclampsia8 tests
  • Preeclampsia/eclampsia 52 tests
  • Pregnancy loss, recurrent, susceptibility to, 18 tests
  • Pregnancy loss, recurrent, susceptibility to, 27 tests
  • Pregnancy loss, recurrent, susceptibility to, 32 tests
  • Prekallikrein deficiency5 tests
  • Prelingual sensorineural hearing impairment4 tests
  • Premature birth21 tests
  • Premature chromatid separation trait8 tests
  • Premature coronary artery atherosclerosis1 test
  • Premature graying of hair14 tests
  • Premature loss of primary teeth1 test
  • Premature ovarian failure4 tests
  • Premature ovarian failure 118 tests
  • Premature ovarian failure 2A2 tests
  • Premature ovarian failure 2B2 tests
  • Premature ovarian failure 36 tests
  • Premature ovarian failure 54 tests
  • Premature ovarian failure 64 tests
  • Premature ovarian failure 76 tests
  • Premature separation of centromeric heterochromatin9 tests
  • Prematurely aged appearance7 tests
  • Presenile cataracts2 tests
  • Preterm premature rupture of membranes6 tests
  • Pretibial dystrophic epidermolysis bullosa7 tests
  • Primary adrenocortical insufficiency14 tests
  • Primary amenorrhea15 tests
  • Primary CD59 deficiency5 tests
  • Primary ciliary dyskinesia23 tests
  • Primary ciliary dyskinesia 1011 tests
  • Primary ciliary dyskinesia 117 tests
  • Primary ciliary dyskinesia 128 tests
  • Primary ciliary dyskinesia 1311 tests
  • Primary ciliary dyskinesia 1415 tests
  • Primary ciliary dyskinesia 1511 tests
  • Primary ciliary dyskinesia 1615 tests
  • Primary ciliary dyskinesia 1710 tests
  • Primary ciliary dyskinesia 194 tests
  • Primary ciliary dyskinesia 28 tests
  • Primary ciliary dyskinesia 225 tests
  • Primary ciliary dyskinesia 315 tests
  • Primary ciliary dyskinesia 611 tests
  • Primary ciliary dyskinesia 711 tests
  • Primary ciliary dyskinesia 915 tests
  • Primary dilated cardiomyopathy29 tests
  • Primary erythromelalgia12 tests
  • Primary failure of tooth eruption5 tests
  • Primary familial hypertrophic cardiomyopathy24 tests
  • Primary familial polycythemia due to EPO receptor mutation7 tests
  • Primary hyperoxaluria type 39 tests
  • Primary hyperoxaluria, type I8 tests
  • Primary hyperoxaluria, type II7 tests
  • Primary hyperparathyroidism3 tests
  • Primary hypomagnesemia5 tests
  • Primary immunodeficiency syndrome due to p14 deficiency5 tests
  • Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency3 tests
  • Primary intestinal lymphangiectasia4 tests
  • Primary microcephaly6 tests
  • Primary myelofibrosis20 tests
  • Primary open angle glaucoma6 tests
  • Primitive reflex4 tests
  • Profound global developmental delay3 tests
  • Profound hearing impairment4 tests
  • Progeroid facial appearance3 tests
  • Progeroid features-hepatocellular carcinoma predisposition syndrome1 test
  • Progesterone resistance2 tests
  • Progressive59 tests
  • Progressive bulbar palsy of childhood7 tests
  • Progressive demyelinating neuropathy with bilateral striatal necrosis7 tests
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency3 tests
  • Progressive external ophthalmoplegia7 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 129 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 29 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 47 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 514 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 129 tests
  • Progressive familial heart block type IB5 tests
  • Progressive familial heart block, type 1A18 tests
  • Progressive familial intrahepatic cholestasis5 tests
  • Progressive familial intrahepatic cholestasis type 29 tests
  • Progressive familial intrahepatic cholestasis type 35 tests
  • Progressive hearing impairment1 test
  • Progressive microcephaly11 tests
  • Progressive myoclonic epilepsy5 tests
  • Progressive myoclonic epilepsy type 39 tests
  • Progressive myoclonic epilepsy type 53 tests
  • Progressive myoclonic epilepsy type 610 tests
  • Progressive myositis ossificans5 tests
  • Progressive neurologic deterioration2 tests
  • Progressive osseous heteroplasia11 tests
  • Progressive pseudorheumatoid dysplasia4 tests
  • Progressive retinal dystrophy due to retinol transport defect6 tests
  • Progressive sclerosing poliodystrophy29 tests
  • Progressive sensorineural hearing impairment4 tests
  • Progressive supranuclear ophthalmoplegia6 tests
  • Progressive supranuclear palsy-parkinsonism syndrome6 tests
  • Progressive visual loss7 tests
  • Prolactin-producing pituitary gland adenoma3 tests
  • Prolidase deficiency4 tests
  • Proliferative vitreoretinopathy2 tests
  • Proline dehydrogenase deficiency9 tests
  • Prolinuria2 tests
  • Prolonged bleeding after surgery2 tests
  • Prolonged neonatal jaundice3 tests
  • Prolonged partial thromboplastin time7 tests
  • Prolonged PR interval8 tests
  • Prolonged QT interval5 tests
  • Prominence of the premaxilla8 tests
  • Prominent forehead37 tests
  • Prominent metopic ridge2 tests
  • Prominent nasal bridge30 tests
  • Prominent nasal septum1 test
  • Prominent nose18 tests
  • Prominent occiput12 tests
  • Prominent supraorbital ridges3 tests
  • Properdin deficiency, X-linked4 tests
  • Propionic acidemia12 tests
  • Proptosis58 tests
  • Prostate cancer, hereditary, 13 tests
  • Prostate cancer, hereditary, 132 tests
  • Prostate cancer, hereditary, 26 tests
  • Prostate cancer/brain cancer susceptibility2 tests
  • Proteasome-associated autoinflammatory syndrome 15 tests
  • Protein Z deficiency2 tests
  • Proteinuria29 tests
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis7 tests
  • Proteus syndrome5 tests
  • Protoporphyria, erythropoietic, 15 tests
  • Protruding ear21 tests
  • Protruding tongue8 tests
  • Protuberant abdomen1 test
  • Proximal amyotrophy7 tests
  • Proximal muscle weakness18 tests
  • Proximal muscle weakness in lower limbs2 tests
  • Proximal myopathy with extrapyramidal signs2 tests
  • Proximal placement of thumb4 tests
  • Proximal symphalangism 1A4 tests
  • Proximal/middle symphalangism of 5th finger2 tests
  • Prune belly syndrome2 tests
  • Pruritus16 tests
  • PSAT deficiency1 test
  • Pseudo von Willebrand disease12 tests
  • Pseudo-Hurler polydystrophy10 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome5 tests
  • Pseudoepiphysis of the thumb1 test
  • Pseudoexfoliation glaucoma4 tests
  • Pseudofolliculitis barbae2 tests
  • Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance3 tests
  • Pseudohyperaldosteronism type 24 tests
  • Pseudohypoaldosteronism type 2B4 tests
  • Pseudohypoaldosteronism type 2C6 tests
  • Pseudohypoaldosteronism type 2D4 tests
  • Pseudohypoaldosteronism type 2E3 tests
  • Pseudohypoparathyroidism11 tests
  • Pseudohypoparathyroidism type 1B12 tests
  • Pseudohypoparathyroidism type 1C11 tests
  • Pseudopseudohypoparathyroidism11 tests
  • Pseudoxanthoma elasticum11 tests
  • Pseudoxanthoma elasticum, forme fruste9 tests
  • Psoriasis6 tests
  • Psoriasis 13, susceptibility to3 tests
  • Psoriasis 25 tests
  • Psoriasis 7, susceptibility to2 tests
  • Psoriatic arthritis, susceptibility to6 tests
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism3 tests
  • Psychotic disorder12 tests
  • PTEN hamartoma tumor syndrome1 test
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency7 tests
  • Ptosis93 tests
  • Ptosis, hereditary congenital, 11 test
  • PULMONARY ALVEOLAR MICROLITHIASIS3 tests
  • Pulmonary alveolar proteinosis5 tests
  • Pulmonary arterial hypertension3 tests
  • Pulmonary capillary hemangiomatosis2 tests
  • Pulmonary embolism3 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 110 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 210 tests
  • Pulmonary hypertension, neonatal, susceptibility to12 tests
  • Pulmonary hypertension, primary, 126 tests
  • Pulmonary hypertension, primary, 25 tests
  • Pulmonary hypertension, primary, 39 tests
  • Pulmonary hypoplasia8 tests
  • Pulmonary infiltrates7 tests
  • Pulmonary lymphangiectasia4 tests
  • Pulmonary venoocclusive disease 1, autosomal dominant6 tests
  • Pulmonary venous occlusion2 tests
  • Pulmonic stenosis16 tests
  • Purine-nucleoside phosphorylase deficiency6 tests
  • Pursed lips4 tests
  • PYCR1-related de Barsy syndrome7 tests
  • Pyelonephritis3 tests
  • Pyknodysostosis9 tests
  • Pyle metaphyseal dysplasia1 test
  • Pyloric stenosis6 tests
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome4 tests
  • Pyogenic bacterial infections due to MyD88 deficiency7 tests
  • Pyridoxal phosphate-responsive seizures7 tests
  • Pyridoxine-dependent epilepsy10 tests
  • Pyropoikilocytosis, hereditary4 tests
  • Pyruvate carboxylase deficiency19 tests
  • Pyruvate dehydrogenase complex deficiency16 tests
  • Pyruvate dehydrogenase E1-alpha deficiency2 tests
  • Pyruvate dehydrogenase E1-beta deficiency12 tests
  • Pyruvate dehydrogenase E2 deficiency7 tests
  • Pyruvate dehydrogenase E3 deficiency20 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency9 tests
  • Pyruvate dehydrogenase phosphatase deficiency7 tests
  • Pyruvate kinase deficiency of red cells5 tests
  • Pyruvate kinase hyperactivity5 tests
  • Quebec platelet disorder4 tests
  • Question mark ears, isolated2 tests
  • Rabson-Mendenhall syndrome12 tests
  • Radial aplasia-thrombocytopenia syndrome7 tests
  • Radial bowing8 tests
  • Radial club hand1 test
  • Radial deviation of finger10 tests
  • Radial deviation of the hand1 test
  • Radioulnar synostosis25 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 14 tests
  • Rafiq syndrome4 tests
  • Rapadilino syndrome13 tests
  • RAPH BLOOD GROUP SYSTEM1 test
  • Rapp-Hodgkin ectodermal dysplasia syndrome6 tests
  • RASopathy14 tests
  • Recessive dystrophic epidermolysis bullosa8 tests
  • Rectal neoplasm9 tests
  • Rectilinear intracellular accumulation of autofluorescent lipopigment storage material9 tests
  • Rectovaginal fistula1 test
  • Recurrent aphthous stomatitis6 tests
  • Recurrent bacterial infections8 tests
  • Recurrent bronchitis4 tests
  • Recurrent fractures41 tests
  • Recurrent fungal infections3 tests
  • Recurrent infections31 tests
  • Recurrent lower respiratory tract infections5 tests
  • Recurrent mycobacterial infections2 tests
  • Recurrent Neisseria infections due to factor D deficiency5 tests
  • Recurrent otitis media26 tests
  • Recurrent pneumonia7 tests
  • Recurrent respiratory infections76 tests
  • Recurrent sinopulmonary infections2 tests
  • Recurrent sinusitis12 tests
  • Recurrent skin infections2 tests
  • Recurrent urinary tract infections11 tests
  • Recurrent viral infections5 tests
  • Reduced bone mineral density36 tests
  • Reduced consciousness/confusion3 tests
  • Reduced factor VIII activity7 tests
  • Reduced insulin like growth factor binding protein acid labile subunit concentration2 tests
  • Reduced sperm motility5 tests
  • Reduced tendon reflexes36 tests
  • Reduced thyroxin-binding globulin3 tests
  • Reduced visual acuity19 tests
  • Refractory macrocytic anemia4 tests
  • Reis-Bucklers' corneal dystrophy5 tests
  • Relapsing remitting multiple sclerosis2 tests
  • Relative macrocephaly20 tests
  • Renal carnitine transport defect17 tests
  • Renal coloboma syndrome9 tests
  • Renal cortical microcysts4 tests
  • Renal corticomedullary cysts2 tests
  • Renal cyst15 tests
  • Renal cysts and diabetes syndrome12 tests
  • Renal dysplasia, cystic, susceptibility to3 tests
  • Renal Fanconi syndrome6 tests
  • Renal hypodysplasia/aplasia 126 tests
  • Renal hypodysplasia/aplasia 22 tests
  • Renal hypomagnesemia 25 tests
  • Renal hypomagnesemia 44 tests
  • Renal hypomagnesemia 5 with ocular involvement7 tests
  • Renal hypomagnesemia 64 tests
  • Renal hypoplasia21 tests
  • Renal hypoplasia/aplasia30 tests
  • Renal insufficiency26 tests
  • Renal neoplasm7 tests
  • Renal phosphate wasting1 test
  • Renal sarcoma1 test
  • Renal tubular acidosis12 tests
  • Renal tubular acidosis with progressive nerve deafness10 tests
  • Renal tubular acidosis, distal, 4, with hemolytic anemia8 tests
  • Renal tubular dysfunction7 tests
  • Renal tubular dysgenesis20 tests
  • Renal-hepatic-pancreatic dysplasia 114 tests
  • Renal-hepatic-pancreatic dysplasia 27 tests
  • Renpenning syndrome15 tests
  • Respiratory acidosis3 tests
  • Respiratory distress10 tests
  • Respiratory failure14 tests
  • Respiratory insufficiency59 tests
  • Respiratory insufficiency due to defective ciliary clearance16 tests
  • Respiratory insufficiency due to muscle weakness13 tests
  • Respiratory tract infection4 tests
  • Resting heart rate2 tests
  • Restrictive cardiomyopathy1 test
  • Restrictive ventilatory defect11 tests
  • Reticular dysgenesis7 tests
  • Reticular hyperpigmentation1 test
  • Reticulate acropigmentation of Kitamura6 tests
  • Reticulocytosis2 tests
  • Retinal atrophy8 tests
  • Retinal calcification3 tests
  • Retinal cone dystrophy 3A5 tests
  • Retinal cone dystrophy 46 tests
  • Retinal degeneration18 tests
  • Retinal detachment17 tests
  • Retinal dysplasia15 tests
  • Retinal dystrophy15 tests
  • Retinal flecks1 test
  • Retinal fold4 tests
  • Retinal macular dystrophy type 27 tests
  • Retinal nonattachment4 tests
  • Retinal thinning6 tests
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations9 tests
  • Retinitis pigmentosa48 tests
  • Retinitis pigmentosa 15 tests
  • Retinitis pigmentosa 106 tests
  • Retinitis pigmentosa 115 tests
  • Retinitis pigmentosa 1210 tests
  • Retinitis pigmentosa 135 tests
  • Retinitis pigmentosa 146 tests
  • Retinitis pigmentosa 175 tests
  • Retinitis pigmentosa 185 tests
  • Retinitis pigmentosa 198 tests
  • Retinitis pigmentosa 25 tests
  • Retinitis pigmentosa 2011 tests
  • Retinitis pigmentosa 2324 tests
  • Retinitis pigmentosa 259 tests
  • Retinitis pigmentosa 2610 tests
  • Retinitis pigmentosa 275 tests
  • Retinitis pigmentosa 289 tests
  • Retinitis pigmentosa 39 tests
  • Retinitis pigmentosa 305 tests
  • Retinitis pigmentosa 316 tests
  • Retinitis pigmentosa 335 tests
  • Retinitis pigmentosa 356 tests
  • Retinitis pigmentosa 365 tests
  • Retinitis pigmentosa 379 tests
  • Retinitis pigmentosa 385 tests
  • Retinitis pigmentosa 3913 tests
  • Retinitis pigmentosa 47 tests
  • Retinitis pigmentosa 406 tests
  • Retinitis pigmentosa 417 tests
  • Retinitis pigmentosa 425 tests
  • Retinitis pigmentosa 435 tests
  • Retinitis pigmentosa 445 tests
  • Retinitis pigmentosa 455 tests
  • Retinitis pigmentosa 467 tests
  • Retinitis pigmentosa 476 tests
  • Retinitis pigmentosa 485 tests
  • Retinitis pigmentosa 495 tests
  • Retinitis pigmentosa 509 tests
  • Retinitis pigmentosa 5112 tests
  • Retinitis pigmentosa 546 tests
  • Retinitis pigmentosa 5510 tests
  • Retinitis pigmentosa 565 tests
  • Retinitis pigmentosa 575 tests
  • Retinitis pigmentosa 585 tests
  • Retinitis pigmentosa 5914 tests
  • Retinitis pigmentosa 605 tests
  • Retinitis pigmentosa 6116 tests
  • Retinitis pigmentosa 625 tests
  • Retinitis pigmentosa 665 tests
  • Retinitis pigmentosa 78 tests
  • Retinitis pigmentosa 95 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness9 tests
  • Retinitis pigmentosa-deafness syndrome2 tests
  • Retinitis punctata albescens1 test
  • Retinoblastoma8 tests
  • Retinopathy10 tests
  • Retinopathy of prematurity1 test
  • Retrocerebellar cyst2 tests
  • Retrognathia15 tests
  • Rett syndrome14 tests
  • Rett syndrome, congenital variant11 tests
  • Revesz syndrome8 tests
  • Reynolds syndrome5 tests
  • RFT1-congenital disorder of glycosylation8 tests
  • Rh-null, regulator type3 tests
  • Rhabdoid tumor predisposition syndrome 18 tests
  • Rhabdoid tumor predisposition syndrome 29 tests
  • Rhabdomyosarcoma2 tests
  • Rhabdomyosarcoma, embryonal, 28 tests
  • Rheumatoid arthritis16 tests
  • Rhinitis11 tests
  • Rhizomelia7 tests
  • Rhizomelic chondrodysplasia punctata type 127 tests
  • Rhizomelic chondrodysplasia punctata type 27 tests
  • Rhizomelic chondrodysplasia punctata type 310 tests
  • Riboflavin transporter deficiency7 tests
  • Richieri Costa-Pereira syndrome1 test
  • Rickets4 tests
  • RIDDLE syndrome3 tests
  • Rienhoff syndrome11 tests
  • Right atrial isomerism5 tests
  • Right bundle branch block9 tests
  • Right ventricular hypertrophy4 tests
  • Rigidity18 tests
  • Rimmed vacuoles5 tests
  • RIN2 syndrome3 tests
  • Ring dermoid of cornea9 tests
  • Rippling muscle disease 219 tests
  • Roberts-SC phocomelia syndrome9 tests
  • Robinow-Sorauf syndrome6 tests
  • Roifman syndrome1 test
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked6 tests
  • Rotary nystagmus4 tests
  • Rothmund-Thomson syndrome12 tests
  • Rotor syndrome4 tests
  • Round ear3 tests
  • Round face35 tests
  • Roussy-Lévy syndrome10 tests
  • Rubinstein-Taybi syndrome10 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency6 tests
  • Saccharopinuria5 tests
  • Sacral defect with anterior meningocele2 tests
  • Sacral dimple17 tests
  • Saethre-Chotzen syndrome12 tests
  • Saldino-Mainzer syndrome11 tests
  • Salivary gland neoplasm2 tests
  • Salla disease12 tests
  • Sandal gap19 tests
  • Sandhoff disease13 tests
  • Sarcoidosis, susceptibility to, 21 test
  • Sarcoma13 tests
  • Sarcosine dehydrogenase deficiency3 tests
  • Sarcotubular myopathy18 tests
  • Scalp-ear-nipple syndrome3 tests
  • Scanning speech6 tests
  • Scapular winging6 tests
  • Scapulohumeral muscular dystrophy2 tests
  • Scapuloperoneal spinal muscular atrophy11 tests
  • Schaaf-Yang syndrome4 tests
  • SchC6pf-Schulz-Passarge syndrome6 tests
  • Schimke immuno-osseous dysplasia12 tests
  • Schinzel phocomelia syndrome3 tests
  • Schinzel-Giedion syndrome7 tests
  • Schistocytosis1 test
  • Schizencephaly16 tests
  • Schizophrenia32 tests
  • Schizophrenia 155 tests
  • Schizophrenia 182 tests
  • Schizophrenia 49 tests
  • Schizophrenia 62 tests
  • Schizophrenia 93 tests
  • Schneckenbecken dysplasia3 tests
  • Schnyder crystalline corneal dystrophy4 tests
  • Schwannomatosis 116 tests
  • Schwartz-Jampel syndrome6 tests
  • Scissor gait2 tests
  • Sclerocornea9 tests
  • Sclerosteosis 14 tests
  • Sclerosteosis 25 tests
  • Scoliosis130 tests
  • Scoliosis, isolated, susceptibility to, 320 tests
  • SCOTT SYNDROME4 tests
  • Scrotal hypoplasia7 tests
  • Sea-blue histiocyte syndrome6 tests
  • Seborrhea-like dermatitis with psoriasiform elements2 tests
  • Seborrheic dermatitis2 tests
  • Seborrheic keratosis7 tests
  • Seckel syndrome7 tests
  • Seckel syndrome 26 tests
  • Seckel syndrome 49 tests
  • Seckel syndrome 55 tests
  • Seckel syndrome 65 tests
  • Secondary amenorrhea5 tests
  • Secondary growth hormone deficiency5 tests
  • Secondary microcephaly8 tests
  • Seizure203 tests
  • Seizures, benign familial infantile, 310 tests
  • Seizures, benign familial neonatal, 112 tests
  • Seizures, benign familial neonatal, 28 tests
  • Selective pituitary resistance to thyroid hormone4 tests
  • Self-injurious behavior7 tests
  • Self-mutilation9 tests
  • Sengers syndrome8 tests
  • Senior-Loken syndrome 118 tests
  • Senior-Loken syndrome 410 tests
  • Senior-Loken syndrome 58 tests
  • Senior-Loken syndrome 626 tests
  • Senior-Loken syndrome 710 tests
  • Sensorimotor neuropathy6 tests
  • Sensorineural hearing loss disorder108 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis30 tests
  • Sensory axonal neuropathy7 tests
  • Sensory neuropathy1 test
  • Sepsis5 tests
  • Septo-optic dysplasia sequence12 tests
  • SERKAL syndrome7 tests
  • Serum level of adiponectin 12 tests
  • Severe combined immunodeficiency disease7 tests
  • Severe combined immunodeficiency due to CARD11 deficiency4 tests
  • Severe combined immunodeficiency due to CORO1A deficiency6 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency10 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency11 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive11 tests
  • Severe congenital hypochromic anemia with ringed sideroblasts2 tests
  • Severe congenital neutropenia12 tests
  • Severe cystic degeneration of the brain1 test
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome2 tests
  • Severe dystonia1 test
  • Severe early-childhood-onset retinal dystrophy14 tests
  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency5 tests
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2 tests
  • Severe global developmental delay8 tests
  • Severe intellectual disability-progressive spastic diplegia syndrome5 tests
  • Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome2 tests
  • Severe muscular hypotonia20 tests
  • Severe myoclonic epilepsy in infancy19 tests
  • Severe neonatal-onset encephalopathy with microcephaly14 tests
  • Severe neurodegenerative syndrome with lipodystrophy17 tests
  • Severe platyspondyly4 tests
  • Severe primary microcephaly1 test
  • Severe short stature9 tests
  • Severe viral infection3 tests
  • Severe X-linked myotubular myopathy9 tests
  • Shallow acetabular fossae1 test
  • Shallow anterior chamber4 tests
  • Shallow orbits10 tests
  • Shawl scrotum6 tests
  • Short 4th metacarpal5 tests
  • Short 5th finger1 test
  • Short chin13 tests
  • Short clavicles5 tests
  • Short columella9 tests
  • Short digit3 tests
  • Short distal phalanx of finger19 tests
  • Short distal phalanx of toe1 test
  • Short femoral neck2 tests
  • Short finger8 tests
  • Short foot12 tests
  • Short fourth metatarsal5 tests
  • Short hallux2 tests
  • Short humerus1 test
  • Short long bone10 tests
  • Short metacarpal15 tests
  • Short metatarsal3 tests
  • Short middle phalanx of finger2 tests
  • Short neck50 tests
  • Short nose53 tests
  • Short palm1 test
  • Short palpebral fissure16 tests
  • Short phalanx of finger4 tests
  • Short philtrum38 tests
  • Short QT syndrome type 113 tests
  • Short QT syndrome type 216 tests
  • Short QT syndrome type 314 tests
  • Short ribs10 tests
  • Short sleep, familial natural, 12 tests
  • Short stature due to growth hormone qualitative anomaly1 test
  • Short stature due to partial GHR deficiency7 tests
  • Short stature due to primary acid-labile subunit deficiency2 tests
  • Short stature with microcephaly and distinctive facies3 tests
  • Short stature, microcephaly, and endocrine dysfunction3 tests
  • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome2 tests
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome2 tests
  • Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome3 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome6 tests
  • SHORT syndrome5 tests
  • Short thorax12 tests
  • Short thumb11 tests
  • Short tibia8 tests
  • Short toe21 tests
  • Short umbilical cord1 test
  • Short-rib thoracic dysplasia 6 with or without polydactyly6 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly7 tests
  • Shoulder girdle muscle weakness3 tests
  • Shprintzen-Goldberg syndrome7 tests
  • Shuffling gait1 test
  • Shwachman-Diamond syndrome 18 tests
  • Sialic acid storage disease, severe infantile type12 tests
  • Sialidosis type 29 tests
  • Sialuria16 tests
  • Sick sinus syndrome 118 tests
  • Sick sinus syndrome 2, autosomal dominant10 tests
  • Sick sinus syndrome 3, susceptibility to8 tests
  • Sideroblastic anemia8 tests
  • Sideroblastic anemia 26 tests
  • Silver-Russell syndrome 13 tests
  • Simplified gyral pattern22 tests
  • Simpson-Golabi-Behmel syndrome type 115 tests
  • Simpson-Golabi-Behmel syndrome type 224 tests
  • Single transverse palmar crease23 tests
  • Single umbilical artery3 tests
  • Sinoatrial node dysfunction and deafness4 tests
  • Sinusitis17 tests
  • Sirenomelia1 test
  • Sitosterolemia7 tests
  • Situs inversus27 tests
  • Sjögren-Larsson syndrome11 tests
  • Skeletal defects, genital hypoplasia, and intellectual disability3 tests
  • Skeletal dysplasia26 tests
  • Skeletal muscle hypertrophy1 test
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome12 tests
  • Skin rash2 tests
  • Skin ulcer22 tests
  • SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN7 tests
  • SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN4 tests
  • SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR2 tests
  • Skin/hair/eye pigmentation, variation in, 14 tests
  • Skin/hair/eye pigmentation, variation in, 102 tests
  • Skin/hair/eye pigmentation, variation in, 113 tests
  • Skin/hair/eye pigmentation, variation in, 25 tests
  • Skin/hair/eye pigmentation, variation in, 43 tests
  • Skin/hair/eye pigmentation, variation in, 55 tests
  • SLC35A1-congenital disorder of glycosylation7 tests
  • Sleep apnea2 tests
  • Sleep disturbance13 tests
  • Slender build4 tests
  • Slender finger7 tests
  • Slender long bone12 tests
  • Slender nose4 tests
  • Sloping forehead22 tests
  • Slow acetylator due to N-acetyltransferase enzyme variant2 tests
  • Slow saccadic eye movements8 tests
  • Slow-growing hair6 tests
  • Small cell lung carcinoma8 tests
  • Small earlobe3 tests
  • Small for gestational age20 tests
  • Small hand4 tests
  • Small nail11 tests
  • Small pituitary gland1 test
  • Smith-Lemli-Opitz syndrome22 tests
  • Smith-Magenis syndrome10 tests
  • Smith-McCort dysplasia 15 tests
  • Smoking as a quantitative trait locus 33 tests
  • Smooth philtrum12 tests
  • Snowflake vitreoretinal degeneration4 tests
  • Sodium serum level quantitative trait locus 111 tests
  • Soft skin5 tests
  • Solitary median maxillary central incisor syndrome8 tests
  • Soluble interleukin-6 receptor, serum level of, quantitative trait locus2 tests
  • Somatic sensory dysfunction9 tests
  • Somatotroph adenoma15 tests
  • Sorsby fundus dystrophy6 tests
  • Sotos syndrome11 tests
  • Sparse and thin eyebrow19 tests
  • Sparse axillary hair5 tests
  • Sparse hair22 tests
  • Sparse lateral eyebrow1 test
  • Sparse pubic hair5 tests
  • Spastic ataxia6 tests
  • Spastic ataxia 36 tests
  • Spastic ataxia 47 tests
  • Spastic ataxia 57 tests
  • Spastic gait12 tests
  • Spastic paraparesis4 tests
  • Spastic paraplegia29 tests
  • Spastic paraplegia 52, autosomal recessive3 tests
  • Spastic tetraparesis7 tests
  • Spastic tetraplegia23 tests
  • Spasticity53 tests
  • Specific granule deficiency 13 tests
  • Specific learning disability12 tests
  • Speech apraxia3 tests
  • Speech articulation difficulties2 tests
  • Spermatogenic failure 114 tests
  • Spermatogenic failure 42 tests
  • Spermatogenic failure 76 tests
  • Spermatogenic failure 86 tests
  • Spermatogenic failure 95 tests
  • Spheroid body myopathy9 tests
  • Sphingolipid activator protein 1 deficiency12 tests
  • Sphingomyelin/cholesterol lipidosis2 tests
  • Spina bifida occulta8 tests
  • Spinal canal stenosis6 tests
  • Spinal cord compression4 tests
  • Spinal dysraphism1 test
  • Spinal muscular atrophy9 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome6 tests
  • Spinal rigidity7 tests
  • spino-cellular carcinoma1 test
  • Spinocerebellar ataxia 76 tests
  • Spinocerebellar ataxia type 14 tests
  • Spinocerebellar ataxia type 105 tests
  • Spinocerebellar ataxia type 114 tests
  • Spinocerebellar ataxia type 124 tests
  • Spinocerebellar ataxia type 147 tests
  • Spinocerebellar ataxia type 15/166 tests
  • Spinocerebellar ataxia type 174 tests
  • Spinocerebellar ataxia type 19/229 tests
  • Spinocerebellar ataxia type 24 tests
  • Spinocerebellar ataxia type 234 tests
  • Spinocerebellar ataxia type 276 tests
  • Spinocerebellar ataxia type 287 tests
  • Spinocerebellar ataxia type 314 tests
  • Spinocerebellar ataxia type 3412 tests
  • Spinocerebellar ataxia type 355 tests
  • Spinocerebellar ataxia type 363 tests
  • Spinocerebellar ataxia type 54 tests
  • Spinocerebellar ataxia type 617 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 15 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 29 tests
  • Splenic rupture8 tests
  • Splenomegaly53 tests
  • Split hand-foot malformation 1 with sensorineural hearing loss3 tests
  • Split hand-foot malformation 46 tests
  • Split hand-foot malformation 62 tests
  • Spondylo-megaepiphyseal-metaphyseal dysplasia3 tests
  • Spondylocarpotarsal synostosis syndrome10 tests
  • Spondylocostal dysostosis11 tests
  • Spondylocostal dysostosis 2, autosomal recessive8 tests
  • Spondylocostal dysostosis 3, autosomal recessive4 tests
  • Spondylocostal dysostosis 4, autosomal recessive3 tests
  • Spondyloenchondrodysplasia with immune dysregulation5 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures6 tests
  • Spondyloepimetaphyseal dysplasia with multiple dislocations3 tests
  • Spondyloepimetaphyseal dysplasia, aggrecan type4 tests
  • Spondyloepimetaphyseal dysplasia, Maroteaux type11 tests
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type4 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type3 tests
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type3 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome3 tests
  • Spondyloepiphyseal dysplasia congenita20 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations4 tests
  • Spondyloepiphyseal dysplasia, Kimberley type4 tests
  • Spondylometaphyseal dysplasia21 tests
  • Spondylometaphyseal dysplasia, Kozlowski type11 tests
  • Spondylometaphyseal dysplasia, Sedaghatian type2 tests
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloperipheral dysplasia20 tests
  • Spongiform encephalopathy with neuropsychiatric features4 tests
  • Spongy degeneration of central nervous system19 tests
  • Spontaneous hematomas4 tests
  • Spontaneous, recurrent epistaxis3 tests
  • Spotty hypopigmentation3 tests
  • Sprinting performance1 test
  • Squamous cell carcinoma10 tests
  • Squamous cell carcinoma of the head and neck27 tests
  • Squared iliac bones3 tests
  • SRD5A3-congenital disorder of glycosylation10 tests
  • Stage 5 chronic kidney disease11 tests
  • Stapes ankylosis with broad thumbs and toes4 tests
  • Stargardt disease 312 tests
  • Stargardt disease 47 tests
  • Status epilepticus15 tests
  • Steatocystoma multiplex4 tests
  • Steatorrhea4 tests
  • Steel syndrome6 tests
  • Steinert myotonic dystrophy syndrome3 tests
  • Stenosis of the external auditory canal5 tests
  • Stenosis of the medullary cavity of the long bones2 tests
  • Steppage gait11 tests
  • Sterile multifocal osteomyelitis with periostitis and pustulosis4 tests
  • Sterol carrier protein 2 deficiency9 tests
  • Stickler syndrome type 120 tests
  • Stickler syndrome type 210 tests
  • Stickler syndrome, type 410 tests
  • Stickler syndrome, type 58 tests
  • Stickler syndrome, type I, nonsyndromic ocular20 tests
  • Stiff skin syndrome14 tests
  • Stillbirth9 tests
  • STING-associated vasculopathy with onset in infancy5 tests
  • Stippled chondral calcification4 tests
  • Strabismus, susceptibility to89 tests
  • Stridor4 tests
  • Stroke, susceptibility to, 14 tests
  • Stuve-Wiedemann syndrome10 tests
  • Subacute progressive viral hepatitis2 tests
  • Subcutaneous hemorrhage24 tests
  • Submucous cleft hard palate8 tests
  • Succinate-semialdehyde dehydrogenase deficiency14 tests
  • Succinyl-CoA acetoacetate transferase deficiency9 tests
  • Sucrase-isomaltase deficiency3 tests
  • Sudden cardiac death14 tests
  • SUDDEN INFANT DEATH SYNDROME19 tests
  • Sudden infant death-dysgenesis of the testes syndrome2 tests
  • Sulfite oxidase deficiency9 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B8 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C7 tests
  • Sunken cheeks10 tests
  • Superiorly displaced ears1 test
  • Supernumerary nipple5 tests
  • Superoxide dismutase, elevated extracellular2 tests
  • Supranuclear gaze palsy6 tests
  • Supravalvar aortic stenosis11 tests
  • Surfactant metabolism dysfunction, pulmonary, 24 tests
  • Surfactant metabolism dysfunction, pulmonary, 53 tests
  • Susceptibility to angioedema induced by ACE inhibitors2 tests
  • Susceptibility to bulimia nervosa7 tests
  • Susceptibility to HIV infection16 tests
  • Susceptibility to mononeuropathy of the median nerve, mild5 tests
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation5 tests
  • Symmetrical dyschromatosis of extremities8 tests
  • Symphalangism affecting the phalanges of the hallux2 tests
  • Symphalangism affecting the phalanges of the hand2 tests
  • Symphalangism, proximal, 1B4 tests
  • Symphalangism-brachydactyly syndrome4 tests
  • Syncope9 tests
  • Syndactyly17 tests
  • Syndactyly type 310 tests
  • Syndactyly type 43 tests
  • Syndactyly type 53 tests
  • Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)4 tests
  • Syndromic intellectual disability2 tests
  • Syndromic microphthalmia9 tests
  • Syndromic microphthalmia type 58 tests
  • Syndromic multisystem autoimmune disease due to ITCH deficiency3 tests
  • Syndromic X-linked intellectual disability 145 tests
  • Syndromic X-linked intellectual disability 949 tests
  • Syndromic X-linked intellectual disability Claes-Jensen type7 tests
  • Syndromic X-linked intellectual disability Hedera type7 tests
  • Syndromic X-linked intellectual disability Lubs type14 tests
  • Syndromic X-linked intellectual disability Najm type15 tests
  • Syndromic X-linked intellectual disability Nascimento type9 tests
  • Syndromic X-linked intellectual disability Raymond type4 tests
  • Syndromic X-linked intellectual disability Siderius type5 tests
  • Syndromic X-linked intellectual disability Snyder type8 tests
  • Synophrys9 tests
  • Synostosis of carpal bones10 tests
  • Synovial sarcoma1 test
  • Synpolydactyly type 13 tests
  • Synpolydactyly type 23 tests
  • Syringomyelia8 tests
  • Systemic lupus erythematosus16 tests
  • Systemic lupus erythematosus, susceptibility to, 1