U.S. flag

An official website of the United States government

Institute for Human Genetics (University Medical Center Freiburg)

General information

Institute for Human Genetics
University Medical Center Freiburg
Freiburg
Baden-Wurttemberg
Germany - D-79106
http://www.humangenetik.uniklinik-freiburg.de/
Organization ID: 21170

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 230

Gene

GeneSubmissionsLast Updated
ALOX12B114Jan 18, 2021
ALOXE337Jan 18, 2021
CYP4F2243Apr 26, 2018
LOC1268624852Jan 18, 2021
LOC1299951241May 21, 2019
LOC1300601965Jan 18, 2021
LOC1300601988Jan 18, 2021
MITF1May 30, 2018
NIPAL425May 21, 2019
PORCN2Jan 17, 2018
SERPINA122Aug 2, 2023
SULT2B14May 10, 2017
SYNJ12Apr 25, 2018

Condition

NameSubmissionsLast Updated
Autosomal recessive congenital ichthyosis 11May 10, 2017
Autosomal recessive congenital ichthyosis 2117Jan 18, 2021
Autosomal recessive congenital ichthyosis 337Jan 18, 2021
Autosomal recessive congenital ichthyosis 543Apr 26, 2018
Autosomal recessive congenital ichthyosis 625May 21, 2019
Early-onset Parkinson disease 202Apr 25, 2018
Focal dermal hypoplasia2Jan 17, 2018
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type2Aug 2, 2023
Waardenburg syndrome type 21May 30, 2018

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 31 test
3-methylglutaconic aciduria type 81 test
3M syndrome 21 test
3MC syndrome 11 test
46,XX sex reversal 11 test
46,XX sex reversal 41 test
46,XY sex reversal 11 test
46,XY sex reversal 21 test
46,XY sex reversal 31 test
46,XY sex reversal 91 test
46,xx sex reversal 51 test
ABri amyloidosis1 test
ACTH-independent macronodular adrenal hyperplasia 11 test
ACTH-independent macronodular adrenal hyperplasia 21 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
ADULT syndrome1 test
ADan amyloidosis1 test
ALG11-congenital disorder of glycosylation1 test
ALG12-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C1 test
ALG8 congenital disorder of glycosylation1 test
Abetalipoproteinaemia1 test
Abortive cerebellar ataxia2 tests
Acheiropodia1 test
Achondrogenesis, type IA1 test
Achondrogenesis, type IB1 test
Achondroplasia1 test
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Acne inversa, familial, 11 test
Acne inversa, familial, 21 test
Acne inversa, familial, 32 tests
Acquired hemoglobin H disease1 test
Acral peeling skin syndrome1 test
Acrocallosal syndrome1 test
Acrocapitofemoral dysplasia1 test
Acrocephalosyndactyly type I1 test
Acrodermatitis continua suppurativa of Hallopeau1 test
Acrodysostosis 1 with or without hormone resistance2 tests
Acrodysostosis 2 with or without hormone resistance1 test
Acroerythrokeratoderma1 test
Acrokeratosis verruciformis of Hopf1 test
Acromesomelic dysplasia 1, Maroteaux type1 test
Acromesomelic dysplasia 31 test
Acromicric dysplasia2 tests
Action myoclonus-renal failure syndrome1 test
Acute febrile neutrophilic dermatosis1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acute lymphoid leukemia1 test
Acute myeloid leukemia1 test
Adams-Oliver syndrome 11 test
Adams-Oliver syndrome 21 test
Adams-Oliver syndrome 31 test
Adams-Oliver syndrome 51 test
Adrenocortical carcinoma, hereditary2 tests
Adult-onset autosomal dominant demyelinating leukodystrophy1 test
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
Agammaglobulinemia 7, autosomal recessive1 test
Age related macular degeneration 11 test
Age related macular degeneration 22 tests
Age related macular degeneration 61 test
Age related macular degeneration 71 test
Aicardi-Goutieres syndrome 11 test
Aicardi-Goutieres syndrome 21 test
Aicardi-Goutieres syndrome 31 test
Aicardi-Goutieres syndrome 41 test
Aicardi-Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Aicardi-Goutieres syndrome 71 test
Al-Gazali syndrome1 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Allan-Herndon-Dudley syndrome1 test
Alopecia-intellectual disability syndrome 41 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 22 tests
Alveolar rhabdomyosarcoma1 test
Alzheimer disease 21 test
Alzheimer disease 33 tests
Alzheimer disease 41 test
Amelogenesis imperfecta type 1A1 test
Amish lethal microcephaly1 test
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 151 test
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 181 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 201 test
Amyotrophic lateral sclerosis type 211 test
Amyotrophic lateral sclerosis type 221 test
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis, susceptibility to, 241 test
Amyotrophic lateral sclerosis, susceptibility to, 251 test
Amyotrophic neuralgia1 test
Anauxetic dysplasia 11 test
Anauxetic dysplasia 21 test
Anauxetic dysplasia 31 test
Andersen Tawil syndrome2 tests
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome1 test
Aniridia 11 test
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 71 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 11 test
Aortic valve disease 21 test
Aplastic anemia2 tests
Apolipoprotein c-III deficiency1 test
Apparent mineralocorticoid excess1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
Arrhythmogenic right ventricular dysplasia 12 tests
Arrhythmogenic right ventricular dysplasia 102 tests
Arrhythmogenic right ventricular dysplasia 112 tests
Arrhythmogenic right ventricular dysplasia 122 tests
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 92 tests
Arterial calcification, generalized, of infancy, 11 test
Arterial tortuosity syndrome1 test
Arthrogryposis multiplex congenita 3, myogenic type1 test
Arthrogryposis multiplex congenita 52 tests
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Arts syndrome1 test
Asphyxiating thoracic dystrophy 21 test
Asphyxiating thoracic dystrophy 41 test
Asphyxiating thoracic dystrophy 51 test
Ataxia - oculomotor apraxia type 41 test
Ataxia-hypogonadism-choroidal dystrophy syndrome1 test
Ataxia-telangiectasia syndrome2 tests
Ataxia-telangiectasia-like disorder 11 test
Atelosteogenesis type II1 test
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 112 tests
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 32 tests
Atrial fibrillation, familial, 42 tests
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 71 test
Atrial fibrillation, familial, 92 tests
Atrial septal defect 31 test
Atrial septal defect 41 test
Atrial septal defect 51 test
Atrial septal defect 61 test
Atrial septal defect 71 test
Atrial septal defect 81 test
Atrial standstill 12 tests
Atrial standstill 21 test
Atrioventricular septal defect1 test
Atrophia bulborum hereditaria1 test
Atypical glycine encephalopathy1 test
Auditory neuropathy, autosomal dominant 31 test
Auriculocondylar syndrome 21 test
Autism, susceptibility to, 151 test
Autism, susceptibility to, 161 test
Autism, susceptibility to, 171 test
Autism, susceptibility to, 51 test
Autism, susceptibility to, X-linked 11 test
Autism, susceptibility to, X-linked 22 tests
Autism, susceptibility to, X-linked 31 test
Autism, susceptibility to, X-linked 41 test
Autism, susceptibility to, X-linked 51 test
Autoimmune lymphoproliferative syndrome type 42 tests
Autoinflammation with arthritis and dyskeratosis1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
Autoinflammatory syndrome, familial, Behcet-like 11 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant Parkinson disease 12 tests
Autosomal dominant Parkinson disease 42 tests
Autosomal dominant Parkinson disease 82 tests
Autosomal dominant Robinow syndrome 11 test
Autosomal dominant Robinow syndrome 21 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant hypocalcemia 21 test
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1 test
Autosomal dominant keratitis1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome2 tests
Autosomal dominant lamellar ichthyosis1 test
Autosomal dominant mitochondrial myopathy with exercise intolerance1 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 2B2 tests
Autosomal dominant nonsyndromic hearing loss 3A2 tests
Autosomal dominant nonsyndromic hearing loss 3B2 tests
Autosomal dominant nonsyndromic hearing loss 62 tests
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant optic atrophy classic form2 tests
Autosomal dominant osteopetrosis 11 test
Autosomal dominant osteopetrosis 21 test
Autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
Autosomal dominant popliteal pterygium syndrome1 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant sideroblastic anemia1 test
Autosomal dominant vitreoretinochoroidopathy2 tests
Autosomal recessive Alport syndrome2 tests
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive Parkinson disease 141 test
Autosomal recessive Robinow syndrome1 test
Autosomal recessive amelia1 test
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive bestrophinopathy2 tests
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
Autosomal recessive congenital ichthyosis 11 test
Autosomal recessive congenital ichthyosis 101 test
Autosomal recessive congenital ichthyosis 111 test
Autosomal recessive congenital ichthyosis 21 test
Autosomal recessive congenital ichthyosis 31 test
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B1 test
Autosomal recessive congenital ichthyosis 51 test
Autosomal recessive congenital ichthyosis 61 test
Autosomal recessive congenital ichthyosis 81 test
Autosomal recessive congenital ichthyosis 91 test
Autosomal recessive cutis laxa type 2B1 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive distal spinal muscular atrophy 21 test
Autosomal recessive early-onset Parkinson disease 231 test
Autosomal recessive early-onset Parkinson disease 62 tests
Autosomal recessive early-onset Parkinson disease 72 tests
Autosomal recessive hypophosphatemic bone disease1 test
Autosomal recessive inherited pseudoxanthoma elasticum1 test
Autosomal recessive juvenile Parkinson disease 21 test
Autosomal recessive keratitis-ichthyosis-deafness syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 1A6 tests
Autosomal recessive nonsyndromic hearing loss 1B2 tests
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 971 test
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 41 test
Autosomal recessive osteopetrosis 51 test
Autosomal recessive osteopetrosis 61 test
Autosomal recessive osteopetrosis 71 test
Autosomal recessive osteopetrosis 81 test
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive pseudohypoaldosteronism type 13 tests
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 101 test
Autosomal recessive spinocerebellar ataxia 121 test
Autosomal recessive spinocerebellar ataxia 131 test
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 171 test
Autosomal recessive spinocerebellar ataxia 21 test
Autosomal recessive spinocerebellar ataxia 201 test
Autosomal recessive spinocerebellar ataxia 71 test
Avascular necrosis of femoral head, primary, 21 test
Avellino corneal dystrophy1 test
Ayme-Gripp syndrome1 test
BAP1-related tumor predisposition syndrome1 test
BLOOD GROUP--DIEGO SYSTEM1 test
BLOOD GROUP--FROESE1 test
BLOOD GROUP--SWANN SYSTEM1 test
BLOOD GROUP--WALDNER TYPE1 test
BLOOD GROUP--WRIGHT ANTIGEN1 test
Baller-Gerold syndrome1 test
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 142 tests
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 191 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 201 test
Bardet-Biedl syndrome 221 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 61 test
Bardet-Biedl syndrome 81 test
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 51 test
Basal cell carcinoma, susceptibility to, 13 tests
Basal cell carcinoma, susceptibility to, 72 tests
Beaded hair3 tests
Beare-Stevenson cutis gyrata syndrome1 test
Beckwith-Wiedemann syndrome1 test
Benign concentric annular macular dystrophy1 test
Benign familial hematuria2 tests
Bent bone dysplasia syndrome 11 test
Beta-D-mannosidosis1 test
Bethlem myopathy 1A1 test
Bietti crystalline corneoretinal dystrophy1 test
Bifunctional peroxisomal enzyme deficiency1 test
Biotin-responsive basal ganglia disease1 test
Birt-Hogg-Dube syndrome2 tests
Blau syndrome1 test
Blepharocheilodontic syndrome 12 tests
Blepharophimosis - intellectual disability syndrome, MKB type1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Bloom syndrome1 test
Bone marrow failure syndrome 52 tests
Bone mineral density quantitative trait locus 11 test
Bone mineral density quantitative trait locus 181 test
Bone osteosarcoma5 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Bothnia retinal dystrophy1 test
Brachydactyly type A1A1 test
Brachydactyly type A1D1 test
Brachydactyly type B11 test
Brachydactyly type B21 test
Brachydactyly type D1 test
Brachydactyly type E11 test
Brachydactyly type E21 test
Brachydactyly-arterial hypertension syndrome1 test
Brachydactyly-elbow wrist dysplasia syndrome1 test
Brachydactyly-syndactyly syndrome1 test
Brachyolmia-amelogenesis imperfecta syndrome1 test
Brachyrachia (short spine dysplasia)1 test
Bradyopsia2 tests
Branchiooculofacial syndrome1 test
Branchiootic syndrome 31 test
Branchiootorenal syndrome 21 test
Breast-ovarian cancer, familial, susceptibility to, 12 tests
Breast-ovarian cancer, familial, susceptibility to, 22 tests
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Brittle cornea syndrome 11 test
Brittle cornea syndrome 21 test
Bronchiectasis with or without elevated sweat chloride 13 tests
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Brooke-Spiegler syndrome1 test
Bruck syndrome 21 test
Brugada syndrome 12 tests
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 71 test
Brugada syndrome 91 test
C1Q deficiency3 tests
CARASIL syndrome1 test
CBL-related disorder1 test
CEDNIK syndrome1 test
CHARGE association1 test
CK syndrome1 test
CLAPO syndrome1 test
CLOVES syndrome1 test
COACH syndrome 11 test
COACH syndrome 31 test
CODAS syndrome1 test
Café-au-lait macules with pulmonary stenosis2 tests
Calvarial doughnut lesions-bone fragility syndrome1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Camptomelic dysplasia2 tests
Capillary infantile hemangioma1 test
Capillary malformation-arteriovenous malformation 12 tests
Capillary malformation-arteriovenous malformation 21 test
Carcinoma of pancreas7 tests
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1 test
Cardiac arrhythmia, ankyrin-B-related1 test
Cardiac valvular defect, developmental1 test
Cardiac valvular dysplasia, X-linked2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy, dilated, 2E1 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2 tests
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
Cardiospondylocarpofacial syndrome1 test
Carney complex, type 12 tests
Carney-Stratakis syndrome3 tests
Carnitine acylcarnitine translocase deficiency1 test
Carpal tunnel syndrome 11 test
Cataract 1 multiple types1 test
Cataract 11 multiple types1 test
Cataract 15 multiple types1 test
Cataract 19 multiple types1 test
Cataract 20 multiple types1 test
Cataract 21 multiple types1 test
Cataract 301 test
Cataract 34 multiple types1 test
Cataract 361 test
Cataract 381 test
Cataract 401 test
Cataract 412 tests
Cataract 431 test
Cataract 441 test
Cataract 451 test
Cataract 46 juvenile-onset1 test
Cataract 491 test
Cataract 5 multiple types1 test
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
Catecholaminergic polymorphic ventricular tachycardia 12 tests
Catecholaminergic polymorphic ventricular tachycardia 21 test
Catecholaminergic polymorphic ventricular tachycardia 31 test
Catecholaminergic polymorphic ventricular tachycardia 41 test
Catecholaminergic polymorphic ventricular tachycardia 51 test
Cenani-Lenz syndactyly syndrome1 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2 tests
Cerebellar ataxia-hypogonadism syndrome1 test
Cerebellar atrophy, developmental delay, and seizures1 test
Cerebellar atrophy, visual impairment, and psychomotor retardation;1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
Cerebral arteriovenous malformation1 test
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 22 tests
Cerebral cavernous malformation 32 tests
Cerebral palsy, spastic quadriplegic, 21 test
Cerebro-costo-mandibular syndrome1 test
Cerebrooculofacioskeletal syndrome 21 test
Cerebroretinal microangiopathy with calcifications and cysts 21 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Cervical cancer1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2S1 test
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease axonal type 2V1 test
Charcot-Marie-Tooth disease axonal type 2X1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1E2 tests
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 2B21 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2Y1 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4G1 test
Charcot-Marie-Tooth disease, axonal, Type 2HH1 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
Charcot-Marie-Tooth disease, demyelinating, IIA 1I1 test
Charcot-Marie-Tooth disease, dominant intermediate G1 test
Charcot-Marie-Tooth disease, type IA2 tests
Charlevoix-Saguenay spastic ataxia1 test
Chilblain lupus 11 test
Chilblain lupus 21 test
Child syndrome1 test
Childhood onset GLUT1 deficiency syndrome 21 test
Cholestasis-pigmentary retinopathy-cleft palate syndrome1 test
Chondrodysplasia Blomstrand type1 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Chorea-acanthocytosis1 test
Choroid plexus papilloma2 tests
Choroidal dystrophy, central areolar 22 tests
Choroidal dystrophy, central areolar, 11 test
Choroideremia2 tests
Christianson syndrome1 test
Chromosome 2p16.3 deletion syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chuvash polycythemia2 tests
Chédiak-Higashi syndrome1 test
Clark-Baraitser syndrome1 test
Classic dopamine transporter deficiency syndrome1 test
Cleidocranial dysostosis1 test
Clubfoot1 test
Cobblestone lissencephaly without muscular or ocular involvement1 test
Coenzyme Q10 deficiency, primary, 31 test
Coenzyme q10 deficiency, primary, 91 test
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 101 test
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 81 test
Cognitive impairment with or without cerebellar ataxia1 test
Cohen syndrome1 test
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 21 test
Coloboma of optic nerve1 test
Coloboma, ocular, autosomal dominant1 test
Colorectal cancer14 tests
Colorectal cancer, hereditary nonpolyposis, type 22 tests
Colorectal cancer, hereditary nonpolyposis, type 62 tests
Colorectal cancer, susceptibility to, 102 tests
Colorectal cancer, susceptibility to, 122 tests
Combined PSAP deficiency1 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 22 tests
Combined oxidative phosphorylation defect type 251 test
Combined oxidative phosphorylation defect type 71 test
Combined oxidative phosphorylation deficiency 281 test
Complex cortical dysplasia with other brain malformations 11 test
Complex cortical dysplasia with other brain malformations 21 test
Complex cortical dysplasia with other brain malformations 31 test
Complex cortical dysplasia with other brain malformations 41 test
Complex cortical dysplasia with other brain malformations 51 test
Complex cortical dysplasia with other brain malformations 61 test
Complex cortical dysplasia with other brain malformations 71 test
Cone dystrophy 41 test
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy 101 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 151 test
Cone-rod dystrophy 181 test
Cone-rod dystrophy 191 test
Cone-rod dystrophy 21 test
Cone-rod dystrophy 201 test
Cone-rod dystrophy 221 test
Cone-rod dystrophy 32 tests
Cone-rod dystrophy 51 test
Cone-rod dystrophy 61 test
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod dystrophy and hearing loss 11 test
Cone-rod dystrophy and hearing loss 21 test
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
Congenital bile acid synthesis defect 51 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital contractural arachnodactyly1 test
Congenital diarrhea 5 with tufting enteropathy2 tests
Congenital disorder of deglycosylation 11 test
Congenital heart defects and ectodermal dysplasia1 test
Congenital heart defects, multiple types, 21 test
Congenital heart defects, multiple types, 41 test
Congenital heart defects, multiple types, 51 test
Congenital heart defects, multiple types, 71 test
Congenital hereditary endothelial dystrophy of cornea1 test
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital macrodactylia1 test
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 171 test
Congenital myasthenic syndrome 71 test
Congenital primary aphakia1 test
Congenital reticular ichthyosiform erythroderma1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
Congenital stationary night blindness 1A1 test
Congenital stationary night blindness 1B1 test
Congenital stationary night blindness 1C2 tests
Congenital stationary night blindness 1D1 test
Congenital stationary night blindness 1F1 test
Congenital stationary night blindness 1G1 test
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 12 tests
Congenital stationary night blindness autosomal dominant 21 test
Congenital stationary night blindness autosomal dominant 31 test
Congenital stromal corneal dystrophy1 test
Conotruncal heart malformations3 tests
Corneal dystrophy, Fuchs endothelial, 11 test
Corneal dystrophy, Fuchs endothelial, 32 tests
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, Fuchs endothelial, 81 test
Corneal dystrophy, Meesmann, 11 test
Corneal dystrophy, Meesmann, 21 test
Corneal dystrophy, lattice type 3A1 test
Corneal dystrophy-perceptive deafness syndrome1 test
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Cortical dysplasia, complex, with other brain malformations 91 test
Cortical dysplasia-focal epilepsy syndrome1 test
Costello syndrome1 test
Cowden syndrome 12 tests
Cowden syndrome 51 test
Cowden syndrome 61 test
Coxopodopatellar syndrome1 test
Craniodiaphyseal dysplasia, autosomal dominant1 test
Cranioectodermal dysplasia 11 test
Cranioectodermal dysplasia 21 test
Cranioectodermal dysplasia 31 test
Cranioectodermal dysplasia 41 test
Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11 test
Craniofacial-deafness-hand syndrome1 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Craniosynostosis 21 test
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis 61 test
Craniosynostosis 71 test
Craniosynostosis and dental anomalies1 test
Crouzon syndrome1 test
Crouzon syndrome-acanthosis nigricans syndrome1 test
Cryohydrocytosis1 test
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1 test
Currarino triad1 test
Curry-Hall syndrome1 test
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal recessive, type 1B1 test
Cyclical neutropenia1 test
Cystic fibrosis3 tests
Cystic leukoencephalopathy without megalencephaly1 test
Cystinuria2 tests
DOORS syndrome1 test
DPAGT1-congenital disorder of glycosylation1 test
Danon disease1 test
DeSanto-Shinawi syndrome due to WAC point mutation1 test
Deafness dystonia syndrome1 test
Deafness, congenital heart defects, and posterior embryotoxon1 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of alpha-mannosidase1 test
Deficiency of hyaluronoglucosaminidase1 test
Deficiency of phosphoserine phosphatase1 test
Dejerine-Sottas disease4 tests
Dent disease type 21 test
Dermatitis, atopic, 21 test
Dermatofibrosis lenticularis disseminata1 test
Dermatopathia pigmentosa reticularis2 tests
Desbuquois dysplasia 21 test
Desmin-related myofibrillar myopathy1 test
Desmoid disease, hereditary2 tests
Developmental and epileptic encephalopathy 6B1 test
Developmental and epileptic encephalopathy 981 test
Developmental and epileptic encephalopathy 992 tests
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 251 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 31 test
Developmental and epileptic encephalopathy, 301 test
Developmental and epileptic encephalopathy, 321 test
Developmental and epileptic encephalopathy, 341 test
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 391 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 411 test
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 491 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 511 test
Developmental and epileptic encephalopathy, 521 test
Developmental and epileptic encephalopathy, 531 test
Developmental and epileptic encephalopathy, 541 test
Developmental and epileptic encephalopathy, 551 test
Developmental and epileptic encephalopathy, 561 test
Developmental and epileptic encephalopathy, 571 test
Developmental and epileptic encephalopathy, 581 test
Developmental and epileptic encephalopathy, 621 test
Developmental and epileptic encephalopathy, 641 test
Developmental and epileptic encephalopathy, 661 test
Developmental and epileptic encephalopathy, 671 test
Developmental and epileptic encephalopathy, 681 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 701 test
Developmental and epileptic encephalopathy, 721 test
Developmental and epileptic encephalopathy, 731 test
Developmental and epileptic encephalopathy, 751 test
Developmental and epileptic encephalopathy, 771 test
Developmental and epileptic encephalopathy, 791 test
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 801 test
Developmental and epileptic encephalopathy, 821 test
Developmental and epileptic encephalopathy, 831 test
Developmental and epileptic encephalopathy, 841 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental and epileptic encephalopathy, 881 test
Developmental and epileptic encephalopathy, 91 test
Developmental delay and seizures with or without movement abnormalities1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1 test
DiGeorge syndrome1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diabetes insipidus, nephrogenic, autosomal1 test
Diaphragmatic hernia 31 test
Diaphyseal dysplasia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome1 test
Diastrophic dysplasia1 test
Dicarboxylic aminoaciduria1 test
Diffuse nonepidermolytic palmoplantar keratoderma1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1GG2 tests
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1NN1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1U2 tests
Dilated cardiomyopathy 1V1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Distal myopathy, Tateyama type1 test
Dominant dystrophic epidermolysis bullosa with absence of skin2 tests
Donnai-Barrow syndrome1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Dowling-Degos disease 12 tests
Drash syndrome1 test
Duane-radial ray syndrome1 test
Dystonia 122 tests
Dystonia 162 tests
Dystonia 271 test
Dystonia 28, childhood-onset1 test
Dystonia 321 test
Dystonia 52 tests
Dystonia 91 test
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
EAST syndrome1 test
EEM syndrome1 test
Early-onset Lafora body disease1 test
Early-onset Parkinson disease 201 test
Early-onset generalized limb-onset dystonia2 tests
Early-onset myopathy with fatal cardiomyopathy1 test
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1 test
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome2 tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia and immunodeficiency 11 test
Ectopia lentis 1, isolated, autosomal dominant2 tests
Ectopia lentis 2, isolated, autosomal recessive1 test
Ectopia lentis et pupillae1 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-Danlos syndrome, cardiac valvular type2 tests
Ehlers-Danlos syndrome, classic type, 12 tests
Ehlers-Danlos syndrome, classic type, 21 test
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, musculocontractural type 11 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
Ehlers-Danlos syndrome, type 42 tests
Ehlers-danlos syndrome, arthrochalasia type, 22 tests
Eiken syndrome1 test
Elevated circulating creatine kinase concentration1 test
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy due to GLUT1 deficiency1 test
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
Endometrial carcinoma5 tests
Enhanced S-cone syndrome1 test
Epidermal nevus4 tests
Epidermolysis bullosa pruriginosa2 tests
Epidermolysis bullosa simplex 1A, generalized severe2 tests
Epidermolysis bullosa simplex 1C, localized2 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2 tests
Epidermolysis bullosa simplex 2A, generalized severe2 tests
Epidermolysis bullosa simplex 2B, generalized intermediate2 tests
Epidermolysis bullosa simplex 2C, localized2 tests
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive2 tests
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1 test
Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
Epidermolysis bullosa simplex due to plakophilin deficiency1 test
Epidermolysis bullosa simplex with migratory circinate erythema2 tests
Epidermolysis bullosa simplex with mottled pigmentation2 tests
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex, Koebner type2 tests
Epidermolysis bullosa simplex, Ogna type1 test
Epidermolysis bullosa, junctional 2A, intermediate1 test
Epidermolysis bullosa, junctional 2B, severe1 test
Epidermolysis bullosa, junctional 3A, intermediate1 test
Epidermolysis bullosa, junctional 3B, severe1 test
Epidermolysis bullosa, junctional 4, intermediate1 test
Epidermolysis bullosa, junctional 5A, intermediate1 test
Epidermolysis bullosa, junctional 6, with pyloric atresia1 test
Epidermolytic hyperkeratosis 12 tests
Epidermolytic palmoplantar keratoderma2 tests
Epilepsy, early-onset, vitamin B6-dependent1 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 31 test
Epilepsy, familial focal, with variable foci 41 test
Epilepsy, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 121 test
Epilepsy, idiopathic generalized, susceptibility to, 141 test
Epilepsy, idiopathic generalized, susceptibility to, 161 test
Epilepsy, progressive myoclonic, 111 test
Epilepsy, progressive myoclonic, 121 test
Epilepsy, progressive myoclonic, 1B1 test
Epileptic encephalopathy, infantile or early childhood, 11 test
Episodic ataxia type 11 test
Episodic ataxia type 21 test
Episodic ataxia type 61 test
Episodic ataxia, type 91 test
Episodic kinesigenic dyskinesia 11 test
Episodic pain syndrome, familial, 21 test
Epithelial basement membrane dystrophy1 test
Epithelial recurrent erosion dystrophy1 test
Epsilon-trimethyllysine hydroxylase deficiency1 test
Erythrokeratodermia variabilis et progressiva 12 tests
Erythrokeratodermia variabilis et progressiva 21 test
Erythrokeratodermia variabilis et progressiva 31 test
Erythrokeratodermia variabilis et progressiva 41 test
Erythrokeratodermia variabilis et progressiva 51 test
Erythrokeratodermia variabilis et progressiva 71 test
Euthyroid goiter1 test
Even-plus syndrome1 test
Exudative vitreoretinopathy 2, X-linked1 test
Exudative vitreoretinopathy 41 test
Exudative vitreoretinopathy 61 test
Exudative vitreoretinopathy 71 test
FG syndrome 11 test
FG syndrome 22 tests
Fabry disease1 test
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
Familial Mediterranean fever1 test
Familial Mediterranean fever, autosomal dominant1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 22 tests
Familial adenomatous polyposis 31 test
Familial adenomatous polyposis 41 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial amyloid neuropathy1 test
Familial apolipoprotein C-II deficiency1 test
Familial atrial myxoma2 tests
Familial benign pemphigus1 test
Familial cancer of breast18 tests
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 31 test
Familial cold autoinflammatory syndrome 41 test
Familial cylindromatosis1 test
Familial digital arthropathy-brachydactyly1 test
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial episodic pain syndrome with predominantly upper body involvement1 test
Familial expansile osteolysis1 test
Familial hemophagocytic lymphohistiocytosis 21 test
Familial hemophagocytic lymphohistiocytosis 31 test
Familial hemophagocytic lymphohistiocytosis 41 test
Familial hemophagocytic lymphohistiocytosis 51 test
Familial hyperaldosteronism type III1 test
Familial hypobetalipoproteinemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial hypokalemia-hypomagnesemia1 test
Familial infantile myoclonic epilepsy1 test
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 11 test
Familial juvenile hyperuricemic nephropathy type 21 test
Familial medullary thyroid carcinoma2 tests
Familial meningioma6 tests
Familial multiple nevi flammei1 test
Familial partial lipodystrophy, Dunnigan type1 test
Familial scaphocephaly syndrome, McGillivray type1 test
Familial spontaneous pneumothorax2 tests
Familial temporal lobe epilepsy 71 test
Familial type 3 hyperlipoproteinemia1 test
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type1 test
Fanconi anemia complementation group B1 test
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group D12 tests
Fanconi anemia complementation group J2 tests
Fanconi anemia complementation group N2 tests
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group P1 test
Fanconi anemia complementation group T1 test
Fanconi anemia complementation group U1 test
Fanconi anemia, complementation group S2 tests
Fanconi renotubular syndrome 21 test
Fanconi-Bickel syndrome1 test
Fasting plasma glucose level quantitative trait locus 51 test
Fatal familial insomnia1 test
Febrile seizures, familial, 41 test
Feingold syndrome type 11 test
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies1 test
Fibromatosis, gingival, 11 test
Fibromuscular dysplasia, multifocal2 tests
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
Fibrous dysplasia of jaw1 test
Finnish congenital nephrotic syndrome1 test
Fish-eye disease1 test
Fleck corneal dystrophy1 test
Floating-Harbor syndrome1 test
Focal dermal hypoplasia1 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 71 test
Foveal hypoplasia 11 test
Frank-Ter Haar syndrome1 test
Fraser syndrome 31 test
Frasier syndrome1 test
Frontometaphyseal dysplasia 12 tests
Frontometaphyseal dysplasia 21 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny1 test
Frontotemporal dementia3 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 81 test
Fuhrmann syndrome1 test
Fumarase deficiency1 test
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
GTP cyclohydrolase I deficiency with hyperphenylalaninemia2 tests
Gallbladder disease 41 test
Galloway-Mowat syndrome 11 test
Galloway-Mowat syndrome 71 test
Galloway-Mowat syndrome 81 test
Gastric adenocarcinoma and proximal polyposis of the stomach2 tests
Gastric cancer8 tests
Gastrointestinal stromal tumor2 tests
Gaucher disease due to saposin C deficiency1 test
Geleophysic dysplasia 11 test
Geleophysic dysplasia 22 tests
Geleophysic dysplasia 31 test
Generalized dominant dystrophic epidermolysis bullosa2 tests
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 91 test
Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
Genitopatellar syndrome1 test
Germ cell tumor of testis3 tests
Gerstmann-Straussler-Scheinker syndrome1 test
Ghosal hematodiaphyseal dysplasia1 test
Gillespie syndrome1 test
Glaucoma 3, primary congenital, E1 test
Glaucoma, normal tension, susceptibility to3 tests
Glioma susceptibility 12 tests
Glioma susceptibility 22 tests
Glioma susceptibility 32 tests
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1 test
Global developmental delay with speech and behavioral abnormalities1 test
Glomerulopathy with fibronectin deposits 21 test
Glomuvenous malformation1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Gnathodiaphyseal dysplasia1 test
Gorlin syndrome2 tests
Graft-versus-host disease, susceptibility to1 test
Grange syndrome1 test
Greenberg dysplasia1 test
Griscelli syndrome type 21 test
Groenouw corneal dystrophy type I1 test
Growth delay due to insulin-like growth factor I resistance1 test
Growth delay due to insulin-like growth factor type 1 deficiency1 test
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
Guillain-Barre syndrome, familial2 tests
Guttmacher syndrome1 test
H syndrome1 test
Haim-Munk syndrome1 test
Hair morphology 11 test
Hajdu-Cheney syndrome1 test
Hand-foot-genital syndrome1 test
Hao-Fountain syndrome1 test
Hearing loss, X-linked 11 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hearing loss, autosomal recessive 571 test
Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
Heart-hand syndrome, Slovenian type1 test
Heimler syndrome 11 test
Heimler syndrome 21 test
Helicoid peripapillary chorioretinal degeneration1 test
Hemochromatosis type 11 test
Hemolytic anemia due to hexokinase deficiency1 test
Hepatitis B virus, susceptibility to1 test
Hepatocellular carcinoma7 tests
Hereditary cryohydrocytosis with reduced stomatin1 test
Hereditary diffuse gastric adenocarcinoma2 tests
Hereditary disease95 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies2 tests
Hereditary lymphedema type I1 test
Hereditary motor and sensory neuropathy, Okinawa type1 test
Hereditary mucoepithelial dysplasia1 test
Hereditary pancreatitis4 tests
Hereditary sensory and autonomic neuropathy type 61 test
Hereditary sensory and autonomic neuropathy type 71 test
Hereditary spastic paraplegia 101 test
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 21 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 311 test
Hereditary spastic paraplegia 391 test
Hereditary spastic paraplegia 41 test
Hereditary spastic paraplegia 441 test
Hereditary spastic paraplegia 451 test
Hereditary spastic paraplegia 471 test
Hereditary spastic paraplegia 491 test
Hereditary spastic paraplegia 511 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 571 test
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 71 test
Hereditary spastic paraplegia 721 test
Hereditary spastic paraplegia 751 test
Hereditary spastic paraplegia 81 test
Hereditary spherocytosis type 41 test
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 91 test
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 5, autosomal1 test
Heterotaxy, visceral, 7, autosomal1 test
Heterotaxy, visceral, 8, autosomal1 test
Heterotopia, periventricular, X-linked dominant2 tests
Hidrotic ectodermal dysplasia syndrome2 tests
High density lipoprotein cholesterol level quantitative trait locus 121 test
High density lipoprotein cholesterol level quantitative trait locus 61 test
Hirschsprung disease, susceptibility to, 12 tests
Hirschsprung disease, susceptibility to, 31 test
Hirschsprung disease, susceptibility to, 41 test
Holoprosencephaly 21 test
Holoprosencephaly 31 test
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly 71 test
Holt-Oram syndrome1 test
Huntington disease1 test
Huntington disease-like 11 test
Hurler syndrome1 test
Hutchinson-Gilford syndrome1 test
Hydatidiform mole, recurrent, 11 test
Hydrocephalus, congenital, 3, with brain anomalies1 test
Hydrolethalus syndrome 21 test
Hyperalphalipoproteinemia 11 test
Hypercalcemia, infantile, 21 test
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, familial, 13 tests
Hypercholesterolemia, familial, 41 test
Hyperekplexia 11 test
Hyperekplexia 31 test
Hyperglycinuria3 tests
Hyperimmunoglobulin D with periodic fever1 test
Hyperkalemic periodic paralysis1 test
Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type 1D1 test
Hyperlipoproteinemia, type I1 test
Hypermanganesemia with dystonia 21 test
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
Hyperostosis cranialis interna1 test
Hyperparathyroidism, transient neonatal1 test
Hyperphosphatasemia with bone disease1 test
Hyperthyroxinemia, dystransthyretinemic1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertriglyceridemia 11 test
Hypertriglyceridemia 21 test
Hypertrophic cardiomyopathy 13 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 42 tests
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 91 test
Hypertrophic osteoarthropathy, primary, autosomal dominant1 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
Hypoalphalipoproteinemia, primary, 11 test
Hypoalphalipoproteinemia, primary, 21 test
Hypoalphalipoproteinemia, primary, 2, intermediate1 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 26 with or without anosmia1 test
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypokalemic periodic paralysis, type 11 test
Hypokalemic periodic paralysis, type 21 test
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
Hypomyelinating leukodystrophy 101 test
Hypomyelinating leukodystrophy 111 test
Hypomyelinating leukodystrophy 121 test
Hypomyelinating leukodystrophy 21 test
Hypomyelinating leukodystrophy 41 test
Hypomyelinating leukodystrophy 61 test
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
Hypomyelinating leukodystrophy 91 test
Hypophosphatemic nephrolithiasis/osteoporosis 11 test
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypopigmentation, organomegaly, and delayed myelination and development1 test
Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypoplastic left heart syndrome 21 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotrichosis 141 test
Hypotrichosis 21 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
IFAP syndrome 1, with or without BRESHECK syndrome1 test
IFAP syndrome 21 test
IMAGe syndrome1 test
Ichthyosis bullosa of Siemens1 test
Ichthyosis hystrix of Curth-Macklin1 test
Ichthyosis prematurity syndrome1 test
Ichthyosis vulgaris1 test
Ichthyosis, annular epidermolytic 12 tests
Ichthyosis, congenital, autosomal recessive 121 test
Ichthyosis, congenital, autosomal recessive 131 test
Ichthyosis, congenital, autosomal recessive 141 test
Ichthyosis, hystrix-like, with hearing loss2 tests
IgE responsiveness, atopic1 test
Iminoglycinuria3 tests
Immunodeficiency 331 test
Immunodeficiency 361 test
Immunodeficiency 951 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
Incontinentia pigmenti syndrome1 test
Infantile GM1 gangliosidosis1 test
Infantile cerebellar-retinal degeneration1 test
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
Infantile convulsions and choreoathetosis1 test
Infantile cortical hyperostosis1 test
Infantile liver failure syndrome 21 test
Infantile nephronophthisis1 test
Infantile neuroaxonal dystrophy1 test
Infantile-onset ascending hereditary spastic paralysis1 test
Inflammatory bowel disease 11 test
Inflammatory bowel disease 251 test
Inflammatory bowel disease 281 test
Inflammatory bowel disease 301 test
Inflammatory bowel disease, immunodeficiency, and encephalopathy1 test
Inherited Creutzfeldt-Jakob disease1 test
Inherited obesity1 test
Inosine triphosphatase deficiency1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual developmental disorder 611 test
Intellectual developmental disorder and retinitis pigmentosa; IDDRP1 test
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1 test
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1 test
Intellectual disability and myopathy syndrome1 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked, syndromic, 351 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 161 test
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 271 test
Intellectual disability, autosomal dominant 391 test
Intellectual disability, autosomal dominant 411 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 501 test
Intellectual disability, autosomal dominant 581 test
Intellectual disability, autosomal dominant 91 test
Intellectual disability, autosomal recessive 121 test
Intellectual disability, autosomal recessive 131 test
Intellectual disability, autosomal recessive 571 test
Intellectual disability, autosomal recessive 651 test
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1 test
Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency2 tests
Irido-corneo-trabecular dysgenesis1 test
Isolated congenital digital clubbing1 test
Isolated focal cortical dysplasia type II4 tests
Isolated focal non-epidermolytic palmoplantar keratoderma1 test
Isolated microphthalmia 21 test
Isolated microphthalmia 51 test
Isolated optic nerve hypoplasia1 test
Jackson-Weiss syndrome1 test
Jawad syndrome1 test
Jervell and Lange-Nielsen syndrome 12 tests
Jervell and Lange-Nielsen syndrome 22 tests
Joubert syndrome 11 test
Joubert syndrome 101 test
Joubert syndrome 131 test
Joubert syndrome 141 test
Joubert syndrome 161 test
Joubert syndrome 181 test
Joubert syndrome 21 test
Joubert syndrome 201 test
Joubert syndrome 221 test
Joubert syndrome 231 test
Joubert syndrome 241 test
Joubert syndrome 261 test
Joubert syndrome 271 test
Joubert syndrome 281 test
Joubert syndrome 321 test
Joubert syndrome 331 test
Joubert syndrome 351 test
Joubert syndrome 371 test
Joubert syndrome 381 test
Joubert syndrome 391 test
Joubert syndrome 401 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome with renal defect1 test
Junctional epidermolysis bullosa gravis of Herlitz1 test
Junctional epidermolysis bullosa with pyloric atresia1 test
Junctional epidermolysis bullosa, non-Herlitz type1 test
Juvenile cataract-microcornea-renal glucosuria syndrome1 test
Juvenile myelomonocytic leukemia4 tests
Juvenile polyposis syndrome4 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
Juvenile primary lateral sclerosis1 test
Juvenile retinoschisis1 test
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kahrizi syndrome1 test
Karyomegalic interstitial nephritis1 test
Keratitis fugax hereditaria1 test
Keratoconus 11 test
Keratoconus 91 test
Keratosis follicularis1 test
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
Keratosis palmoplantaris striata 22 tests
Keratosis palmoplantaris striata 31 test
Keutel syndrome1 test
Kindler syndrome1 test
Kleefstra syndrome 21 test
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1 test
Klippel-Feil syndrome 2, autosomal recessive1 test
Knuckle pads, deafness AND leukonychia syndrome2 tests
Koolen-de Vries syndrome1 test
Krabbe disease due to saposin A deficiency1 test
Kufor-Rakeb syndrome1 test
Kuru, susceptibility to1 test
Kury-Isidor syndrome1 test
L-2-hydroxyglutaric aciduria1 test
LADD syndrome 12 tests
LAMB2-related infantile-onset nephrotic syndrome1 test
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 71 test
Lafora disease1 test
Langer mesomelic dysplasia syndrome2 tests
Large congenital melanocytic nevus2 tests
Laryngo-onycho-cutaneous syndrome1 test
Late-onset retinal degeneration1 test
Lateral meningocele syndrome1 test
Lathosterolosis1 test
Lattice corneal dystrophy Type I1 test
Lattice corneal dystrophy Type III1 test
Laurence-Moon syndrome1 test
Laurin-Sandrow syndrome1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 101 test
Leber congenital amaurosis 112 tests
Leber congenital amaurosis 121 test
Leber congenital amaurosis 131 test
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 191 test
Leber congenital amaurosis 22 tests
Leber congenital amaurosis 31 test
Leber congenital amaurosis 41 test
Leber congenital amaurosis 51 test
Leber congenital amaurosis 61 test
Leber congenital amaurosis 71 test
Leber congenital amaurosis 81 test
Leber congenital amaurosis 91 test
Left ventricular noncompaction 102 tests
Left ventricular noncompaction 71 test
Left ventricular noncompaction 81 test
Legius syndrome2 tests
Lenz-Majewski hyperostosis syndrome1 test
Leri-Weill dyschondrosteosis2 tests
Lethal Kniest-like syndrome1 test
Lethal acantholytic epidermolysis bullosa2 tests
Lethal congenital glycogen storage disease of heart1 test
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
Lethal tight skin contracture syndrome1 test
Leukocyte adhesion deficiency type II1 test
Leukodystrophy and acquired microcephaly with or without dystonia;1 test
Leukodystrophy, hypomyelinating, 141 test
Leukodystrophy, hypomyelinating, 161 test
Leukodystrophy, hypomyelinating, 211 test
Leukoencephalopathy with vanishing white matter 11 test
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
Lewy body dementia2 tests
Li-Fraumeni syndrome 12 tests
Li-Fraumeni syndrome 22 tests
Liang-Wang syndrome1 test
Liberfarb syndrome1 test
Liddle syndrome 11 test
Liddle syndrome 21 test
Liddle syndrome 31 test
Limb-mammary syndrome1 test
Linear nevus sebaceous syndrome3 tests
Lipase deficiency, combined1 test
Lipodystrophy, partial, acquired, susceptibility to1 test
Lipoic acid synthetase deficiency1 test
Lipoprotein glomerulopathy1 test
Lipoyl transferase 1 deficiency1 test
Lissencephaly 101 test
Lissencephaly 41 test
Lissencephaly 6 with microcephaly1 test
Lissencephaly 7 with cerebellar hypoplasia1 test
Lissencephaly 81 test
Lissencephaly 9 with complex brainstem malformation1 test
Lissencephaly due to LIS1 mutation2 tests
Lissencephaly due to TUBA1A mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation2 tests
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 41 test
Long QT syndrome 12 tests
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 141 test
Long QT syndrome 151 test
Long QT syndrome 22 tests
Long QT syndrome 32 tests
Long QT syndrome 52 tests
Long QT syndrome 62 tests
Long QT syndrome 91 test
Long qt syndrome 81 test
Lopes-Maciel-Rodan syndrome1 test
Loricrin keratoderma1 test
Lowe syndrome1 test
Lower motor neuron syndrome with late-adult onset1 test
Lowry-Wood syndrome1 test
Lung cancer4 tests
Lymphangiomyomatosis4 tests
Lymphatic malformation 31 test
Lymphatic malformation 71 test
Lymphoma, non-Hodgkin, familial1 test
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 21 test
Lynch syndrome 12 tests
Lynch syndrome 42 tests
Lynch syndrome 52 tests
Lynch syndrome 82 tests
Lysinuric protein intolerance1 test
MASA syndrome1 test
MASS syndrome2 tests
MEDNIK syndrome1 test
MEGF8-related Carpenter syndrome1 test
MEND syndrome1 test
MGAT2-congenital disorder of glycosylation1 test
MORM syndrome1 test
MPDU1-congenital disorder of glycosylation1 test
MPI-congenital disorder of glycosylation1 test
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA2 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB2 tests
MYH7-related skeletal myopathy1 test
MYPN-related myopathy1 test
Macrocephaly-autism syndrome2 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular corneal dystrophy1 test
Macular degeneration, X-linked atrophic2 tests
Macular degeneration, early-onset1 test
Macular dystrophy with central cone involvement1 test
Majeed syndrome1 test
Malaria, susceptibility to1 test
Malignant hyperthermia, susceptibility to, 51 test
Malignant tumor of esophagus3 tests
Malignant tumor of prostate8 tests
Malignant tumor of urinary bladder4 tests
Mandibular hypoplasia-deafness-progeroid syndrome2 tests
Mandibuloacral dysplasia with type A lipodystrophy1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Marbach-Rustad progeroid syndrome1 test
Marfan syndrome2 tests
Marinesco-Sjögren syndrome1 test
Martsolf syndrome 11 test
Martsolf syndrome 21 test
Mast syndrome1 test
Maturity-onset diabetes of the young type 61 test
McCune-Albright syndrome1 test
McKusick-Kaufman syndrome1 test
Meacham syndrome1 test
Meckel syndrome 131 test
Meckel syndrome, type 11 test
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 41 test
Meckel syndrome, type 51 test
Meckel syndrome, type 81 test
Meckel syndrome, type 91 test
Medulloblastoma4 tests
Megacystis-microcolon-intestinal hypoperistalsis syndrome 11 test
Megacystis-microcolon-intestinal hypoperistalsis syndrome 21 test
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Meier-Gorlin syndrome 11 test
Meier-Gorlin syndrome 21 test
Meier-Gorlin syndrome 31 test
Meier-Gorlin syndrome 51 test
Meier-Gorlin syndrome 61 test
Meier-Gorlin syndrome 81 test
Melanoma and neural system tumor syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 13 tests
Melanoma, cutaneous malignant, susceptibility to, 21 test
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma-pancreatic cancer syndrome1 test
Melnick-Needles syndrome2 tests
Melorheostosis1 test
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
Menstrual cycle-dependent periodic fever1 test
Meretoja syndrome1 test
Mesothelioma, malignant1 test
Metabolic syndrome X1 test
Metachondromatosis1 test
Metaphyseal anadysplasia 21 test
Metaphyseal chondrodysplasia, Jansen type1 test
Metaphyseal chondrodysplasia, McKusick type1 test
Metaphyseal chondrodysplasia, Spahr type1 test
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome1 test
Metaphyseal dysplasia without hypotrichosis1 test
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome1 test
Metatropic dysplasia1 test
Mevalonic aciduria1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephalic primordial dwarfism due to RTTN deficiency1 test
Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
Microcephalic primordial dwarfism, Alazami type1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 11, primary, autosomal recessive1 test
Microcephaly 12, primary, autosomal recessive1 test
Microcephaly 14, primary, autosomal recessive1 test
Microcephaly 15, primary, autosomal recessive1 test
Microcephaly 18, primary, autosomal dominant1 test
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1 test
Microcephaly 20, primary, autosomal recessive1 test
Microcephaly 21, primary, autosomal recessive1 test
Microcephaly 22, primary, autosomal recessive1 test
Microcephaly 23, primary, autosomal recessive1 test
Microcephaly 24, primary, autosomal recessive1 test
Microcephaly 25, primary, autosomal recessive1 test
Microcephaly 26, primary, autosomal dominant1 test
Microcephaly 27, primary, autosomal dominant1 test
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly 4, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive1 test
Microcephaly 6, primary, autosomal recessive1 test
Microcephaly 7, primary, autosomal recessive1 test
Microcephaly 8, primary, autosomal recessive1 test
Microcephaly 9, primary, autosomal recessive1 test
Microcephaly and chorioretinopathy 11 test
Microcephaly and chorioretinopathy 21 test
Microcephaly and chorioretinopathy 31 test
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
Microcephaly, epilepsy, and diabetes syndrome 11 test
Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcephaly, seizures, and developmental delay1 test
Microcephaly, short stature, and impaired glucose metabolism 11 test
Microcephaly, short stature, and impaired glucose metabolism 21 test
Microcephaly-capillary malformation syndrome1 test
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1 test
Microphthalmia with limb anomalies1 test
Microphthalmia, isolated, with coloboma 101 test
Microphthalmia, isolated, with coloboma 31 test
Microphthalmia, isolated, with coloboma 51 test
Microphthalmia, syndromic 11 test
Microvascular complications of diabetes, susceptibility to, 41 test
Microvascular complications of diabetes, susceptibility to, 51 test
Migraine, familial hemiplegic, 11 test
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 31 test
Mismatch repair cancer syndrome 12 tests
Mismatch repair cancer syndrome 22 tests
Mismatch repair cancer syndrome 32 tests
Mismatch repair cancer syndrome 42 tests
Mitochondrial DNA deletion syndrome with progressive myopathy1 test
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)2 tests
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial complex 2 deficiency, nuclear type 31 test
Mitochondrial complex 2 deficiency, nuclear type 41 test
Mitochondrial complex II deficiency, nuclear type 12 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Miyoshi muscular dystrophy 31 test
Mowat-Wilson syndrome2 tests
Moyamoya disease 51 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Mucopolysaccharidosis-plus syndrome1 test
Muenke syndrome1 test
Muir-Torré syndrome4 tests
Mulibrey nanism syndrome1 test
Mullerian aplasia and hyperandrogenism1 test
Multiple benign circumferential skin creases on limbs 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 12 tests
Multiple epiphyseal dysplasia type 41 test
Multiple epiphyseal dysplasia type 51 test
Multiple epiphyseal dysplasia, Al-Gazali type1 test
Multiple mitochondrial dysfunctions syndrome 11 test
Multiple sclerosis, susceptibility to, 51 test
Multiple self-healing squamous epithelioma1 test
Multiple sulfatase deficiency1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Mungan syndrome1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A32 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B32 tests
Mutilating keratoderma2 tests
Myasthenic syndrome, congenital, 25, presynaptic1 test
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive1 test
Myhre syndrome2 tests
Myoclonic dystonia 112 tests
Myoclonic-astatic epilepsy1 test
Myoclonus, familial, 21 test
Myoclonus, intractable, neonatal1 test
Myofibrillar myopathy 111 test
Myofibrillar myopathy 41 test
Myofibrillar myopathy 61 test
Myofibromatosis, infantile, 21 test
Myopathy, distal, with rimmed vacuoles1 test
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy1 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myopathy, myosin storage, autosomal recessive1 test
Myopathy, tubular aggregate, 21 test
Myopia 21, autosomal dominant1 test
Myopia 22, autosomal dominant1 test
Myopia 23, autosomal recessive1 test
Myopia 24, autosomal dominant1 test
Myopia 25, autosomal dominant1 test
Myopia 28, autosomal recessive1 test
Myopia 61 test
Myopia, high, with cataract and vitreoretinal degeneration1 test
Myosin storage myopathy1 test
NDE1-related microhydranencephaly1 test
NPHP3-related Meckel-like syndrome1 test
Naegeli-Franceschetti-Jadassohn syndrome2 tests
Nager syndrome1 test
Nail-patella syndrome1 test
Nail-patella-like renal disease1 test
Nance-Horan syndrome1 test
Nanophthalmos 21 test
Nasopharyngeal carcinoma2 tests
Naxos disease2 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal pseudo-hydrocephalic progeroid syndrome1 test
Neoplasm of ovary6 tests
Nephrogenic syndrome of inappropriate antidiuresis1 test
Nephronophthisis 11 test
Nephronophthisis 111 test
Nephronophthisis 121 test
Nephronophthisis 131 test
Nephronophthisis 141 test
Nephronophthisis 161 test
Nephronophthisis 31 test
Nephronophthisis 41 test
Nephrotic syndrome 141 test
Nephrotic syndrome 151 test
Nephrotic syndrome 161 test
Nephrotic syndrome, type 111 test
Nephrotic syndrome, type 121 test
Nephrotic syndrome, type 131 test
Nephrotic syndrome, type 171 test
Nephrotic syndrome, type 181 test
Nephrotic syndrome, type 191 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 201 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 41 test
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Netherton syndrome1 test
Neu-Laxova syndrome 11 test
Neu-Laxova syndrome 21 test
Neuroblastoma, susceptibility to, 11 test
Neurocutaneous melanocytosis1 test
Neurodegeneration with ataxia and late-onset optic atrophy2 tests
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
Neurodegeneration with brain iron accumulation 2B1 test
Neurodegeneration with brain iron accumulation 51 test
Neurodevelopmental disorder with epilepsy and hemochromatosis1 test
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1 test
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1 test
Neurodevelopmental disorder with visual defects and brain anomalies1 test
Neurofibromatosis, familial spinal2 tests
Neurofibromatosis, type 12 tests
Neurofibromatosis, type 22 tests
Neurofibromatosis-Noonan syndrome2 tests
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Neuronopathy, distal hereditary motor, autosomal recessive 81 test
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2B1 test
Neuronopathy, distal hereditary motor, type 2C1 test
Neuronopathy, distal hereditary motor, type 5B1 test
Neuropathy, congenital hypomyelinating, 21 test
Neuropathy, hereditary motor and sensory, type 6A1 test
Neuropathy, hereditary motor and sensory, type 6B1 test
Neuropathy, hereditary sensory and autonomic, type 1A1 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Neuropathy, hereditary sensory and autonomic, type 2B1 test
Neuropathy, hereditary sensory, type 2C1 test
Neutral 1 amino acid transport defect1 test
Neutropenia, severe congenital, 1, autosomal dominant1 test
Newfoundland cone-rod dystrophy1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Night blindness, congenital stationary, type1i1 test
Nijmegen breakage syndrome-like disorder1 test
Non-ketotic hyperglycinemia1 test
Nonpapillary renal cell carcinoma5 tests
Nonsyndromic congenital nail disorder 82 tests
Noonan syndrome 11 test
Noonan syndrome 101 test
Noonan syndrome 111 test
Noonan syndrome 121 test
Noonan syndrome 131 test
Noonan syndrome 21 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Norman-Roberts syndrome1 test
Norum disease1 test
Nystagmus 1, congenital, X-linked1 test
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
Obesity, hyperphagia, and developmental delay1 test
Occult macular dystrophy1 test
Ocular albinism, type II1 test
Oculodentodigital dysplasia1 test
Oculodentodigital dysplasia, autosomal recessive1 test
Oculootoradial syndrome1 test
Odonto-onycho-dermal dysplasia1 test
Odontochondrodysplasia 11 test
Ogden syndrome1 test
Oguchi disease-11 test
Olmsted syndrome 11 test
Olmsted syndrome 21 test
Olmsted syndrome, X-linked1 test
Opsismodysplasia1 test
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
Optic atrophy 111 test
Optic atrophy 13 with retinal and foveal abnormalities1 test
Optic atrophy 31 test
Optic atrophy 91 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2 tests
Ornithine aminotransferase deficiency1 test
Orofacial cleft 6, susceptibility to1 test
Orofacial cleft 81 test
Orofacial-digital syndrome IV1 test
Orofaciodigital syndrome 161 test
Orofaciodigital syndrome 171 test
Orofaciodigital syndrome I1 test
Orofaciodigital syndrome XV1 test
Orofaciodigital syndrome type 141 test
Osteoarthritis susceptibility 21 test
Osteodysplastic primordial dwarfism, type 11 test
Osteofibrous dysplasia1 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III3 tests
Osteogenesis imperfecta with normal sclerae, dominant form3 tests
Osteogenesis imperfecta, perinatal lethal3 tests
Osteogenesis imperfecta, type 181 test
Osteogenesis imperfecta, type 191 test
Osteogenesis imperfecta, type 201 test
Osteogenesis imperfecta, type 211 test
Osteopetrosis, autosomal dominant 31 test
Osteoporosis4 tests
Osteoporosis with pseudoglioma1 test
Osteosclerotic metaphyseal dysplasia1 test
Otitis media, susceptibility to1 test
Oto-palato-digital syndrome, type I2 tests
Oto-palato-digital syndrome, type II2 tests
Ovarian dysgenesis 61 test
PCWH syndrome1 test
PEHO syndrome1 test
PERCHING syndrome1 test
PGM1-congenital disorder of glycosylation1 test
PHARC syndrome1 test
PHGDH deficiency1 test
PMM2-congenital disorder of glycosylation1 test
PSAT deficiency1 test
PYCR1-related de Barsy syndrome1 test
Pachyonychia congenita 11 test
Pachyonychia congenita 21 test
Pachyonychia congenita 31 test
Pachyonychia congenita 41 test
Paget disease of bone 2, early-onset1 test
Paget disease of bone 31 test
Palmoplantar keratoderma i, striate, focal, or diffuse1 test
Palmoplantar keratoderma, Bothnian type1 test
Palmoplantar keratoderma, Nagashima type1 test
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
Palmoplantar keratoderma, punctate type 1A1 test
Palmoplantar keratoderma-deafness syndrome2 tests
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Pancreatic cancer, susceptibility to, 22 tests
Pancreatic cancer, susceptibility to, 32 tests
Pancreatic cancer, susceptibility to, 42 tests
Papillary renal cell carcinoma type 11 test
Papillon-Lefèvre syndrome1 test
Paragangliomas 11 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 52 tests
Paramyotonia congenita of Von Eulenburg1 test
Parastremmatic dwarfism1 test
Parietal foramina 11 test
Parietal foramina 21 test
Parietal foramina with cleidocranial dysplasia1 test
Parkinson disease 11, autosomal dominant, susceptibility to1 test
Parkinson disease 13, autosomal dominant, susceptibility to1 test
Parkinson disease 171 test
Parkinson disease 24, autosomal dominant, susceptibility to1 test
Parkinson disease 5, autosomal dominant, susceptibility to2 tests
Parkinson disease, late-onset1 test
Paroxysmal extreme pain disorder1 test
Paroxysmal nocturnal hemoglobinuria 11 test
Paroxysmal nonkinesigenic dyskinesia 11 test
Partington syndrome1 test
Patent ductus arteriosus 31 test
Patterned macular dystrophy 12 tests
Patterned macular dystrophy 21 test
Peeling skin syndrome 11 test
Peeling skin syndrome 41 test
Peeling skin syndrome 51 test
Peeling skin syndrome type A1 test
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome1 test
Pelger-Huët anomaly1 test
Pelizaeus-Merzbacher disease1 test
Pelviscapular dysplasia1 test
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
Periodontitis, aggressive 11 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Periventricular nodular heterotopia 71 test
Peroxisome biogenesis disorder 10A (Zellweger)1 test
Peroxisome biogenesis disorder 10B1 test
Peroxisome biogenesis disorder 11A (Zellweger)1 test
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A (Zellweger)1 test
Peroxisome biogenesis disorder 13A (Zellweger)1 test
Peroxisome biogenesis disorder 14B1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 2A (Zellweger)1 test
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 4A (Zellweger)1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6A (Zellweger)1 test
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A (Zellweger)1 test
Peroxisome biogenesis disorder 7B1 test
Peroxisome biogenesis disorder 8A (Zellweger)1 test
Peroxisome biogenesis disorder 8B1 test
Peroxisome biogenesis disorder 9B1 test
Peroxisome biogenesis disorder type 3B1 test
Perrault syndrome 11 test
Peutz-Jeghers syndrome2 tests
Pfeiffer syndrome1 test
Phelan-McDermid syndrome1 test
Pheochromocytoma10 tests
Phosphoribosylpyrophosphate synthetase superactivity1 test
Phytanic acid storage disease1 test
Pick disease3 tests
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
Pierpont syndrome1 test
Pierson syndrome1 test
Pigmentary pallidal degeneration1 test
Pigmentary retinal dystrophy6 tests
Pigmented nodular adrenocortical disease, primary, 12 tests
Pigmented paravenous retinochoroidal atrophy1 test
Pilomatrixoma1 test
Pitt-Hopkins syndrome2 tests
Pitt-Hopkins-like syndrome 21 test
Pituitary adenoma 3, multiple types1 test
Pituitary adenoma 5, multiple types1 test
Pituitary hormone deficiency, combined, 61 test
Pityriasis rubra pilaris1 test
Plasma triglyceride level quantitative trait locus1 test
Pleomorphic adenoma of salivary gland1 test
Pleuropulmonary blastoma1 test
Polycystic kidney disease 21 test
Polycystic kidney disease 41 test
Polycystic kidney disease, adult type1 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
Polycystic liver disease 3 with or without kidney cysts1 test
Polycystic liver disease 4 with or without kidney cysts1 test
Polydactyly of a triphalangeal thumb1 test
Polydactyly, postaxial, type a101 test
Polydactyly, postaxial, type a71 test
Polyglucosan body myopathy type 11 test
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome2 tests
Polyposis syndrome, hereditary mixed, 22 tests
Pontocerebellar hypoplasia type 1A1 test
Pontocerebellar hypoplasia type 1B1 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2D1 test
Pontocerebellar hypoplasia type 2E1 test
Pontocerebellar hypoplasia type 31 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 61 test
Pontocerebellar hypoplasia type 71 test
Pontocerebellar hypoplasia type 81 test
Pontocerebellar hypoplasia, type 111 test
Pontocerebellar hypoplasia, type 131 test
Pontocerebellar hypoplasia, type 1E1 test
Pontocerebellar hypoplasia, type 2F1 test
Porokeratosis 1, Mibelli type1 test
Porokeratosis 3, disseminated superficial actinic type1 test
Porokeratosis 7, multiple types1 test
Porokeratosis 9, multiple types1 test
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 21 test
Posterior polymorphous corneal dystrophy 31 test
Potassium-aggravated myotonia1 test
Prader-Willi syndrome1 test
Premature ovarian failure 171 test
Premature ovarian failure 71 test
Preterm premature rupture of membranes1 test
Pretibial dystrophic epidermolysis bullosa2 tests
Primary coenzyme Q10 deficiency 81 test
Primary erythromelalgia1 test
Primary failure of tooth eruption1 test
Primary open angle glaucoma1 test
Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
Progressive familial heart block, type 1A2 tests
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 61 test
Progressive myoclonic epilepsy type 71 test
Progressive myoclonic epilepsy type 91 test
Progressive osseous heteroplasia1 test
Progressive retinal dystrophy due to retinol transport defect1 test
Progressive sclerosing poliodystrophy1 test
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1 test
Progressive supranuclear palsy-parkinsonism syndrome1 test
Prostate cancer, hereditary, 91 test
Proteasome-associated autoinflammatory syndrome 11 test
Proteasome-associated autoinflammatory syndrome 21 test
Proteasome-associated autoinflammatory syndrome 32 tests
Proteus syndrome1 test
Proximal symphalangism 1A1 test
Pseudo-TORCH syndrome 21 test
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudohypoparathyroidism type I A1 test
Pseudopseudohypoparathyroidism1 test
Psoriasis 15, pustular, susceptibility to1 test
Psoriasis 21 test
Pulmonary hypertension, primary, 11 test
Pulmonary venoocclusive disease 11 test
Pyle metaphyseal dysplasia1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
RAB23-related Carpenter syndrome1 test
RAPH BLOOD GROUP SYSTEM1 test
RCBTB1-related retinopathy1 test
RHYNS syndrome1 test
Radial aplasia-thrombocytopenia syndrome1 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 21 test
Radioulnar synostosis, nonsyndromic, susceptibility to1 test
Rapadilino syndrome1 test
Rapp-Hodgkin ectodermal dysplasia syndrome1 test
Recessive dystrophic epidermolysis bullosa2 tests
Regressive spondylometaphyseal dysplasia1 test
Reis-Bucklers' corneal dystrophy1 test
Renal carnitine transport defect1 test
Renal coloboma syndrome1 test
Renal cysts and diabetes syndrome1 test
Renal hypodysplasia/aplasia 11 test
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Renal tubular dysgenesis of genetic origin1 test
Renal-hepatic-pancreatic dysplasia 11 test
Renpenning syndrome1 test
Respiratory papillomatosis, juvenile recurrent, congenital1 test
Restrictive dermopathy 21 test
Retinal cone dystrophy 3A1 test
Retinal dystrophy and obesity1 test
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
Retinal macular dystrophy type 21 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Retinitis pigmentosa 12 tests
Retinitis pigmentosa 102 tests
Retinitis pigmentosa 112 tests
Retinitis pigmentosa 121 test
Retinitis pigmentosa 131 test
Retinitis pigmentosa 141 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 192 tests
Retinitis pigmentosa 22 tests
Retinitis pigmentosa 202 tests
Retinitis pigmentosa 231 test
Retinitis pigmentosa 252 tests
Retinitis pigmentosa 261 test
Retinitis pigmentosa 271 test
Retinitis pigmentosa 281 test
Retinitis pigmentosa 32 tests
Retinitis pigmentosa 311 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 371 test
Retinitis pigmentosa 381 test
Retinitis pigmentosa 392 tests
Retinitis pigmentosa 42 tests
Retinitis pigmentosa 401 test
Retinitis pigmentosa 411 test
Retinitis pigmentosa 421 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 441 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 461 test
Retinitis pigmentosa 471 test
Retinitis pigmentosa 481 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 502 tests
Retinitis pigmentosa 511 test
Retinitis pigmentosa 541 test
Retinitis pigmentosa 551 test
Retinitis pigmentosa 561 test
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 591 test
Retinitis pigmentosa 601 test
Retinitis pigmentosa 611 test
Retinitis pigmentosa 621 test
Retinitis pigmentosa 661 test
Retinitis pigmentosa 671 test
Retinitis pigmentosa 681 test
Retinitis pigmentosa 691 test
Retinitis pigmentosa 73 tests
Retinitis pigmentosa 701 test
Retinitis pigmentosa 711 test
Retinitis pigmentosa 721 test
Retinitis pigmentosa 731 test
Retinitis pigmentosa 741 test
Retinitis pigmentosa 751 test
Retinitis pigmentosa 762 tests
Retinitis pigmentosa 771 test
Retinitis pigmentosa 781 test
Retinitis pigmentosa 791 test
Retinitis pigmentosa 801 test
Retinitis pigmentosa 811 test
Retinitis pigmentosa 831 test
Retinitis pigmentosa 861 test
Retinitis pigmentosa 87 with choroidal involvement2 tests
Retinitis pigmentosa 881 test
Retinitis pigmentosa 891 test
Retinitis pigmentosa 91 test
Retinitis pigmentosa 901 test
Retinitis pigmentosa and erythrocytic microcytosis1 test
Retinitis pigmentosa with or without situs inversus1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness2 tests
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
Retinoblastoma1 test
Rett syndrome1 test
Rett syndrome, congenital variant2 tests
Reynolds syndrome1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhabdoid tumor predisposition syndrome 21 test
Rhabdomyosarcoma, embryonal, 21 test
Rheumatoid arthritis1 test
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 51 test
Rienhoff syndrome2 tests
Rippling muscle disease 21 test
Ritscher-Schinzel syndrome 11 test
Robinow-Sorauf syndrome1 test
Roifman syndrome1 test
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1 test
Rothmund-Thomson syndrome type 21 test
Roussy-Lévy syndrome3 tests
SERKAL syndrome1 test
SHORT syndrome1 test
SHOX-related short stature2 tests
SLC35A2-congenital disorder of glycosylation1 test
SRD5A3-congenital disorder of glycosylation1 test
STING-associated vasculopathy with onset in infancy1 test
SUDDEN INFANT DEATH SYNDROME2 tests
Saethre-Chotzen syndrome2 tests
Saldino-Mainzer syndrome1 test
Salla disease1 test
Sarcotubular myopathy1 test
Scapuloperoneal spinal muscular atrophy1 test
SchC6pf-Schulz-Passarge syndrome1 test
Schaaf-Yang syndrome1 test
Schimke immuno-osseous dysplasia1 test
Schinzel phocomelia syndrome1 test
Schizencephaly2 tests
Schizophrenia 151 test
Schizophrenia 181 test
Schneckenbecken dysplasia1 test
Schnyder crystalline corneal dystrophy1 test
Schwannomatosis 13 tests
Schwannomatosis 21 test
Schwartz-Jampel syndrome type 11 test
Sclerosteosis 11 test
Sclerosteosis 21 test
Sea-blue histiocyte syndrome1 test
Seborrheic keratosis1 test
Seckel syndrome 101 test
Seckel syndrome 21 test
Seckel syndrome 41 test
Seckel syndrome 51 test
Seckel syndrome 71 test
Seckel syndrome 81 test
Seckel syndrome 91 test
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 51 test
Seizures, benign familial neonatal, 11 test
Seizures, benign familial neonatal, 21 test
Sengers syndrome1 test
Senior-Loken syndrome 11 test
Senior-Loken syndrome 41 test
Senior-Loken syndrome 51 test
Senior-Loken syndrome 61 test
Senior-Loken syndrome 71 test
Senior-Loken syndrome 81 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Sessile serrated polyposis cancer syndrome1 test
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe dermatitis-multiple allergies-metabolic wasting syndrome1 test
Severe early-childhood-onset retinal dystrophy2 tests
Severe intellectual disability-progressive spastic diplegia syndrome1 test
Severe myoclonic epilepsy in infancy1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Short QT syndrome type 12 tests
Short QT syndrome type 22 tests
Short QT syndrome type 32 tests
Short stature due to primary acid-labile subunit deficiency1 test
Short stature with nonspecific skeletal abnormalities1 test
Short stature, Dauber-Argente type1 test
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis1 test
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11 test
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 21 test
Short stature, microcephaly, and endocrine dysfunction1 test
Short stature, oligodontia, dysmorphic facies, and motor delay1 test
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1 test
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1 test
Short-rib thoracic dysplasia 10 with or without polydactyly1 test
Short-rib thoracic dysplasia 14 with polydactyly1 test
Short-rib thoracic dysplasia 16 with or without polydactyly1 test
Short-rib thoracic dysplasia 18 with polydactyly1 test
Short-rib thoracic dysplasia 19 with or without polydactyly1 test
Short-rib thoracic dysplasia 20 with polydactyly1 test
Short-rib thoracic dysplasia 21 without polydactyly1 test
Short-rib thoracic dysplasia 6 with or without polydactyly1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
Shprintzen-Goldberg syndrome1 test
Sialic acid storage disease, severe infantile type1 test
Sialidosis type 21 test
Sick sinus syndrome 12 tests
Sick sinus syndrome 3, susceptibility to1 test
Silver-Russell syndrome 31 test
Silver-russell syndrome 41 test
Simpson-Golabi-Behmel syndrome type 21 test
Singleton-Merten syndrome 11 test
Singleton-Merten syndrome 21 test
Sitosterolemia 11 test
Sitosterolemia 21 test
Sjögren-Larsson syndrome1 test
Small cell lung carcinoma1 test
Smith-McCort dysplasia 21 test
Sneddon syndrome1 test
Snowflake vitreoretinal degeneration1 test
Sodium serum level quantitative trait locus 11 test
Solitary median maxillary central incisor syndrome1 test
Sorsby fundus dystrophy1 test
Southeast Asian ovalocytosis1 test
Spastic ataxia 11 test
Spastic ataxia 21 test
Spastic ataxia 31 test
Spastic ataxia 41 test
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
Spastic paraplegia 80, autosomal dominant1 test
Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
Spastic tetraplegia and axial hypotonia, progressive1 test
Spermatogenic failure 581 test
Spermatogenic failure 81 test
Spermatogenic failures 501 test
Sphingolipid activator protein 1 deficiency1 test
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1 test
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia 441 test
Spinocerebellar ataxia 471 test
Spinocerebellar ataxia 481 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 15/161 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 291 test
Spinocerebellar ataxia type 341 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia, autosomal recessive 241 test
Spinocerebellar ataxia, autosomal recessive 271 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Split hand-foot malformation 41 test
Split hand-foot malformation 61 test
Sponastrime dysplasia1 test
Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
Spondylocostal dysostosis 2, autosomal recessive1 test
Spondylocostal dysostosis 3, autosomal recessive1 test
Spondylocostal dysostosis 4, autosomal recessive1 test
Spondylocostal dysostosis 51 test
Spondyloenchondrodysplasia with immune dysregulation1 test
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
Spondyloepimetaphyseal dysplasia, Genevieve type1 test
Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
Spondyloepimetaphyseal dysplasia, Missouri type1 test
Spondyloepimetaphyseal dysplasia, PAPSS2 type1 test
Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
Spondyloepiphyseal dysplasia tarda, X-linked1 test
Spondyloepiphyseal dysplasia, kondo-fu type1 test
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis1 test
Spondylometaphyseal dysplasia - Sutcliffe type1 test
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome1 test
Spongiform encephalopathy with neuropsychiatric features1 test
Stapes ankylosis with broad thumbs and toes1 test
Stargardt disease 31 test
Stargardt disease 41 test
Steatocystoma multiplex1 test
Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
Sterol carrier protein 2 deficiency1 test
Stiff skin syndrome2 tests
Striatonigral degeneration, childhood-onset1 test
Structural brain anomalies with impaired intellectual development and craniosynostosis1 test
Sturge-Weber syndrome1 test
Stuttering, familial persistent, 11 test
Stüve-Wiedemann syndrome 11 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Supranuclear palsy, progressive, 11 test
Supravalvar aortic stenosis1 test
Susceptibility to HIV infection1 test
Susceptibility to mononeuropathy of the median nerve, mild1 test
Sweeney-Cox syndrome1 test
Symmetrical dyschromatosis of extremities1 test
Symphalangism-brachydactyly syndrome1 test
Syndactyly type 31 test
Syndactyly type 41 test
Syndactyly type 51 test
Syndromic X-linked intellectual disability 141 test
Syndromic X-linked intellectual disability Lubs type1 test
Syndromic X-linked intellectual disability Nascimento type1 test
Syndromic microphthalmia type 51 test
Synpolydactyly type 11 test
Systemic lupus erythematosus1 test
TCF12-related craniosynostosis1 test
TMEM165-congenital disorder of glycosylation1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
TWIST1-related craniosynostosis1 test
Tall stature-scoliosis-macrodactyly of the great toes syndrome1 test
Tangier disease1 test
Tarsal-carpal coalition syndrome1 test
Telangiectasia, hereditary hemorrhagic, type 12 tests
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 51 test
Temtamy preaxial brachydactyly syndrome1 test
Terminal osseous dysplasia-pigmentary defects syndrome2 tests
Tetraamelia syndrome 11 test
Tetralogy of Fallot4 tests
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
Thiel-Behnke corneal dystrophy1 test
Thrombophilia due to protein S deficiency, autosomal dominant1 test
Thrombophilia due to protein S deficiency, autosomal recessive1 test
Thyroid cancer, nonmedullary, 23 tests
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Tibia, hypoplasia or aplasia of, with polydactyly1 test
Tibial muscular dystrophy1 test
Timothy syndrome1 test
Tobacco addiction, susceptibility to1 test
Tooth agenesis, selective, 41 test
Tooth agenesis, selective, 81 test
Tooth agenesis, selective, X-linked, 11 test
Toriello-Lacassie-Droste syndrome1 test
Torsion dystonia 21 test
Torsion dystonia 41 test
Torsion dystonia 62 tests
Townes-Brocks syndrome 11 test
Transient bullous dermolysis of the newborn2 tests
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Transketolase deficiency1 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Tricho-dento-osseous syndrome1 test
Trichoepithelioma, multiple familial, 11 test
Trichohepatoenteric syndrome 21 test
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1 test
Trichorhinophalangeal dysplasia type I1 test
Trichorhinophalangeal syndrome, type III1 test
Trichothiodystrophy 1, photosensitive1 test
Trichothiodystrophy 2, photosensitive1 test
Trichothiodystrophy 3, photosensitive1 test
Trichothiodystrophy 4, nonphotosensitive1 test
Triglyceride storage disease with ichthyosis1 test
Tropical pancreatitis1 test
Troyer syndrome1 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Tumor predisposition syndrome 31 test
Type 2 diabetes mellitus7 tests
Type A2 brachydactyly2 tests
Tyrosinemia type II1 test
Ullrich congenital muscular dystrophy 1A1 test
Ulnar-mammary syndrome1 test
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1D2 tests
Usher syndrome type 1F1 test
Usher syndrome type 1G1 test
Usher syndrome type 1J1 test
Usher syndrome type 2A3 tests
Usher syndrome type 2C2 tests
Usher syndrome type 2D1 test
Usher syndrome type 3A1 test
VACTERL association, X-linked, with or without hydrocephalus1 test
Van den Ende-Gupta syndrome1 test
Van der Woude syndrome 11 test
Vasculitis due to ADA2 deficiency1 test
Velocardiofacial syndrome1 test
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome2 tests
Ventricular fibrillation, paroxysmal familial, type 12 tests
Ventricular septal defect 21 test
Ventricular septal defect 31 test
Ventriculomegaly and arthrogryposis1 test
Vesicoureteral reflux 82 tests
Visceral myopathy 21 test
Vitamin D hydroxylation-deficient rickets, type 1B1 test
Vitamin D-dependent rickets type II with alopecia1 test
Vitelliform macular dystrophy 22 tests
Vitelliform macular dystrophy 32 tests
Vitelliform macular dystrophy 41 test
Vitelliform macular dystrophy 51 test
Vitiligo-associated multiple autoimmune disease susceptibility 11 test
Von Hippel-Lindau syndrome2 tests
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Warburg micro syndrome 11 test
Warburg micro syndrome 21 test
Warburg micro syndrome 31 test
Weill-Marchesani syndrome 2, dominant2 tests
Werner syndrome1 test
White sponge nevus 11 test
White sponge nevus 21 test
Wiedemann-Steiner syndrome1 test
Wilms tumor 13 tests
Wolff-Parkinson-White pattern1 test
Wolfram syndrome 12 tests
Wolfram syndrome 21 test
Wolfram-like syndrome2 tests
Wooly hair-palmoplantar keratoderma syndrome1 test
Worth disease1 test
X-linked Alport syndrome2 tests
X-linked chondrodysplasia punctata 11 test
X-linked complicated corpus callosum dysgenesis1 test
X-linked cone-rod dystrophy 12 tests
X-linked cone-rod dystrophy 31 test
X-linked hydrocephalus syndrome1 test
X-linked ichthyosis with steryl-sulfatase deficiency2 tests
X-linked intellectual disability with marfanoid habitus1 test
X-linked intellectual disability, van Esch type1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
X-linked lissencephaly with abnormal genitalia1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked lymphoproliferative disease due to XIAP deficiency1 test
X-linked reticulate pigmentary disorder1 test
Xeroderma pigmentosum group B1 test
Xeroderma pigmentosum, group D1 test
Yao syndrome1 test