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
University Medical Center Freiburg
Freiburg
Baden-Wurttemberg
Germany - D-79106
http://www.humangenetik.uniklinik-freiburg.de/
Organization ID: 21170
Personnel
- Svenja Alter, Contact
Phone: +49 76127070270
Email: svenja.alter@uniklinik-freiburg.de - Judith Fischer, Medical Director
Phone: +49 76127070510
Email: judith.fischer@uniklinik-freiburg.de - Andreas Zimmer, Variant scientist/curator
Phone: +4976127070300
Email: andreas.zimmer@uniklinik-freiburg.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 230
Gene
Gene | Submissions | Last Updated |
---|---|---|
ALOX12B | 114 | Jan 18, 2021 |
ALOXE3 | 37 | Jan 18, 2021 |
CYP4F22 | 43 | Apr 26, 2018 |
LOC126862485 | 2 | Jan 18, 2021 |
LOC129995124 | 1 | May 21, 2019 |
LOC130060196 | 5 | Jan 18, 2021 |
LOC130060198 | 8 | Jan 18, 2021 |
MITF | 1 | May 30, 2018 |
NIPAL4 | 25 | May 21, 2019 |
PORCN | 2 | Jan 17, 2018 |
SERPINA12 | 2 | Aug 2, 2023 |
SULT2B1 | 4 | May 10, 2017 |
SYNJ1 | 2 | Apr 25, 2018 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Autosomal recessive congenital ichthyosis 1 | 1 | May 10, 2017 |
Autosomal recessive congenital ichthyosis 2 | 117 | Jan 18, 2021 |
Autosomal recessive congenital ichthyosis 3 | 37 | Jan 18, 2021 |
Autosomal recessive congenital ichthyosis 5 | 43 | Apr 26, 2018 |
Autosomal recessive congenital ichthyosis 6 | 25 | May 21, 2019 |
Early-onset Parkinson disease 20 | 2 | Apr 25, 2018 |
Focal dermal hypoplasia | 2 | Jan 17, 2018 |
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | 2 | Aug 2, 2023 |
Waardenburg syndrome type 2 | 1 | May 30, 2018 |
Testing in GTR
Disease name | Number of tests |
---|---|
3-Methylglutaconic aciduria type 3 | 1 test |
3-methylglutaconic aciduria type 8 | 1 test |
3M syndrome 2 | 1 test |
3MC syndrome 1 | 1 test |
46,XX sex reversal 1 | 1 test |
46,XX sex reversal 4 | 1 test |
46,XY sex reversal 1 | 1 test |
46,XY sex reversal 2 | 1 test |
46,XY sex reversal 3 | 1 test |
46,XY sex reversal 9 | 1 test |
46,xx sex reversal 5 | 1 test |
ABri amyloidosis | 1 test |
ACTH-independent macronodular adrenal hyperplasia 1 | 1 test |
ACTH-independent macronodular adrenal hyperplasia 2 | 1 test |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 test |
ADULT syndrome | 1 test |
ADan amyloidosis | 1 test |
ALG11-congenital disorder of glycosylation | 1 test |
ALG12-congenital disorder of glycosylation | 1 test |
ALG6-congenital disorder of glycosylation 1C | 1 test |
ALG8 congenital disorder of glycosylation | 1 test |
Abetalipoproteinaemia | 1 test |
Abortive cerebellar ataxia | 2 tests |
Acheiropodia | 1 test |
Achondrogenesis, type IA | 1 test |
Achondrogenesis, type IB | 1 test |
Achondroplasia | 1 test |
Achromatopsia 2 | 1 test |
Achromatopsia 3 | 1 test |
Achromatopsia 4 | 1 test |
Acne inversa, familial, 1 | 1 test |
Acne inversa, familial, 2 | 1 test |
Acne inversa, familial, 3 | 2 tests |
Acquired hemoglobin H disease | 1 test |
Acral peeling skin syndrome | 1 test |
Acrocallosal syndrome | 1 test |
Acrocapitofemoral dysplasia | 1 test |
Acrocephalosyndactyly type I | 1 test |
Acrodermatitis continua suppurativa of Hallopeau | 1 test |
Acrodysostosis 1 with or without hormone resistance | 2 tests |
Acrodysostosis 2 with or without hormone resistance | 1 test |
Acroerythrokeratoderma | 1 test |
Acrokeratosis verruciformis of Hopf | 1 test |
Acromesomelic dysplasia 1, Maroteaux type | 1 test |
Acromesomelic dysplasia 3 | 1 test |
Acromicric dysplasia | 2 tests |
Action myoclonus-renal failure syndrome | 1 test |
Acute febrile neutrophilic dermatosis | 1 test |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 test |
Acute lymphoid leukemia | 1 test |
Acute myeloid leukemia | 1 test |
Adams-Oliver syndrome 1 | 1 test |
Adams-Oliver syndrome 2 | 1 test |
Adams-Oliver syndrome 3 | 1 test |
Adams-Oliver syndrome 5 | 1 test |
Adrenocortical carcinoma, hereditary | 2 tests |
Adult-onset autosomal dominant demyelinating leukodystrophy | 1 test |
Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 test |
Agammaglobulinemia 7, autosomal recessive | 1 test |
Age related macular degeneration 1 | 1 test |
Age related macular degeneration 2 | 2 tests |
Age related macular degeneration 6 | 1 test |
Age related macular degeneration 7 | 1 test |
Aicardi-Goutieres syndrome 1 | 1 test |
Aicardi-Goutieres syndrome 2 | 1 test |
Aicardi-Goutieres syndrome 3 | 1 test |
Aicardi-Goutieres syndrome 4 | 1 test |
Aicardi-Goutieres syndrome 5 | 1 test |
Aicardi-Goutieres syndrome 6 | 1 test |
Aicardi-Goutieres syndrome 7 | 1 test |
Al-Gazali syndrome | 1 test |
Alagille syndrome due to a JAG1 point mutation | 1 test |
Alagille syndrome due to a NOTCH2 point mutation | 1 test |
Allan-Herndon-Dudley syndrome | 1 test |
Alopecia-intellectual disability syndrome 4 | 1 test |
Alpha thalassemia-X-linked intellectual disability syndrome | 1 test |
Alternating hemiplegia of childhood 1 | 1 test |
Alternating hemiplegia of childhood 2 | 2 tests |
Alveolar rhabdomyosarcoma | 1 test |
Alzheimer disease 2 | 1 test |
Alzheimer disease 3 | 3 tests |
Alzheimer disease 4 | 1 test |
Amelogenesis imperfecta type 1A | 1 test |
Amish lethal microcephaly | 1 test |
Amyotrophic lateral sclerosis type 1 | 1 test |
Amyotrophic lateral sclerosis type 10 | 1 test |
Amyotrophic lateral sclerosis type 12 | 1 test |
Amyotrophic lateral sclerosis type 15 | 1 test |
Amyotrophic lateral sclerosis type 16 | 1 test |
Amyotrophic lateral sclerosis type 18 | 1 test |
Amyotrophic lateral sclerosis type 2, juvenile | 1 test |
Amyotrophic lateral sclerosis type 20 | 1 test |
Amyotrophic lateral sclerosis type 21 | 1 test |
Amyotrophic lateral sclerosis type 22 | 1 test |
Amyotrophic lateral sclerosis type 4 | 1 test |
Amyotrophic lateral sclerosis type 5 | 1 test |
Amyotrophic lateral sclerosis type 8 | 1 test |
Amyotrophic lateral sclerosis, susceptibility to, 24 | 1 test |
Amyotrophic lateral sclerosis, susceptibility to, 25 | 1 test |
Amyotrophic neuralgia | 1 test |
Anauxetic dysplasia 1 | 1 test |
Anauxetic dysplasia 2 | 1 test |
Anauxetic dysplasia 3 | 1 test |
Andersen Tawil syndrome | 2 tests |
Aneurysm-osteoarthritis syndrome | 1 test |
Angelman syndrome | 1 test |
Aniridia 1 | 1 test |
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 1 test |
Anterior segment dysgenesis 1 | 1 test |
Anterior segment dysgenesis 7 | 1 test |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 1 test |
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 1 test |
Aortic aneurysm, familial thoracic 11, susceptibility to | 1 test |
Aortic aneurysm, familial thoracic 4 | 1 test |
Aortic aneurysm, familial thoracic 6 | 1 test |
Aortic aneurysm, familial thoracic 7 | 1 test |
Aortic aneurysm, familial thoracic 8 | 1 test |
Aortic aneurysm, familial thoracic 9 | 1 test |
Aortic valve disease 1 | 1 test |
Aortic valve disease 2 | 1 test |
Aplastic anemia | 2 tests |
Apolipoprotein c-III deficiency | 1 test |
Apparent mineralocorticoid excess | 1 test |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2 tests |
Arrhythmogenic right ventricular dysplasia 1 | 2 tests |
Arrhythmogenic right ventricular dysplasia 10 | 2 tests |
Arrhythmogenic right ventricular dysplasia 11 | 2 tests |
Arrhythmogenic right ventricular dysplasia 12 | 2 tests |
Arrhythmogenic right ventricular dysplasia 5 | 1 test |
Arrhythmogenic right ventricular dysplasia 8 | 2 tests |
Arrhythmogenic right ventricular dysplasia 9 | 2 tests |
Arterial calcification, generalized, of infancy, 1 | 1 test |
Arterial tortuosity syndrome | 1 test |
Arthrogryposis multiplex congenita 3, myogenic type | 1 test |
Arthrogryposis multiplex congenita 5 | 2 tests |
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 1 test |
Arthrogryposis, renal dysfunction, and cholestasis 1 | 1 test |
Arthrogryposis, renal dysfunction, and cholestasis 2 | 1 test |
Arts syndrome | 1 test |
Asphyxiating thoracic dystrophy 2 | 1 test |
Asphyxiating thoracic dystrophy 4 | 1 test |
Asphyxiating thoracic dystrophy 5 | 1 test |
Ataxia - oculomotor apraxia type 4 | 1 test |
Ataxia-hypogonadism-choroidal dystrophy syndrome | 1 test |
Ataxia-telangiectasia syndrome | 2 tests |
Ataxia-telangiectasia-like disorder 1 | 1 test |
Atelosteogenesis type II | 1 test |
Atrial fibrillation, familial, 10 | 2 tests |
Atrial fibrillation, familial, 11 | 2 tests |
Atrial fibrillation, familial, 12 | 1 test |
Atrial fibrillation, familial, 13 | 1 test |
Atrial fibrillation, familial, 14 | 1 test |
Atrial fibrillation, familial, 3 | 2 tests |
Atrial fibrillation, familial, 4 | 2 tests |
Atrial fibrillation, familial, 6 | 1 test |
Atrial fibrillation, familial, 7 | 1 test |
Atrial fibrillation, familial, 9 | 2 tests |
Atrial septal defect 3 | 1 test |
Atrial septal defect 4 | 1 test |
Atrial septal defect 5 | 1 test |
Atrial septal defect 6 | 1 test |
Atrial septal defect 7 | 1 test |
Atrial septal defect 8 | 1 test |
Atrial standstill 1 | 2 tests |
Atrial standstill 2 | 1 test |
Atrioventricular septal defect | 1 test |
Atrophia bulborum hereditaria | 1 test |
Atypical glycine encephalopathy | 1 test |
Auditory neuropathy, autosomal dominant 3 | 1 test |
Auriculocondylar syndrome 2 | 1 test |
Autism, susceptibility to, 15 | 1 test |
Autism, susceptibility to, 16 | 1 test |
Autism, susceptibility to, 17 | 1 test |
Autism, susceptibility to, 5 | 1 test |
Autism, susceptibility to, X-linked 1 | 1 test |
Autism, susceptibility to, X-linked 2 | 2 tests |
Autism, susceptibility to, X-linked 3 | 1 test |
Autism, susceptibility to, X-linked 4 | 1 test |
Autism, susceptibility to, X-linked 5 | 1 test |
Autoimmune lymphoproliferative syndrome type 4 | 2 tests |
Autoinflammation with arthritis and dyskeratosis | 1 test |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 test |
Autoinflammatory syndrome, familial, Behcet-like 1 | 1 test |
Autosomal dominant Alport syndrome | 1 test |
Autosomal dominant Parkinson disease 1 | 2 tests |
Autosomal dominant Parkinson disease 4 | 2 tests |
Autosomal dominant Parkinson disease 8 | 2 tests |
Autosomal dominant Robinow syndrome 1 | 1 test |
Autosomal dominant Robinow syndrome 2 | 1 test |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 test |
Autosomal dominant distal renal tubular acidosis | 1 test |
Autosomal dominant hypocalcemia 2 | 1 test |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 test |
Autosomal dominant keratitis | 1 test |
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 2 tests |
Autosomal dominant lamellar ichthyosis | 1 test |
Autosomal dominant mitochondrial myopathy with exercise intolerance | 1 test |
Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 test |
Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
Autosomal dominant nonsyndromic hearing loss 23 | 1 test |
Autosomal dominant nonsyndromic hearing loss 2B | 2 tests |
Autosomal dominant nonsyndromic hearing loss 3A | 2 tests |
Autosomal dominant nonsyndromic hearing loss 3B | 2 tests |
Autosomal dominant nonsyndromic hearing loss 6 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 65 | 1 test |
Autosomal dominant optic atrophy classic form | 2 tests |
Autosomal dominant osteopetrosis 1 | 1 test |
Autosomal dominant osteopetrosis 2 | 1 test |
Autosomal dominant palmoplantar keratoderma and congenital alopecia | 1 test |
Autosomal dominant popliteal pterygium syndrome | 1 test |
Autosomal dominant pseudohypoaldosteronism type 1 | 1 test |
Autosomal dominant sideroblastic anemia | 1 test |
Autosomal dominant vitreoretinochoroidopathy | 2 tests |
Autosomal recessive Alport syndrome | 2 tests |
Autosomal recessive DOPA responsive dystonia | 2 tests |
Autosomal recessive Parkinson disease 14 | 1 test |
Autosomal recessive Robinow syndrome | 1 test |
Autosomal recessive amelia | 1 test |
Autosomal recessive ataxia due to ubiquinone deficiency | 1 test |
Autosomal recessive ataxia, Beauce type | 1 test |
Autosomal recessive bestrophinopathy | 2 tests |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 test |
Autosomal recessive congenital ichthyosis 1 | 1 test |
Autosomal recessive congenital ichthyosis 10 | 1 test |
Autosomal recessive congenital ichthyosis 11 | 1 test |
Autosomal recessive congenital ichthyosis 2 | 1 test |
Autosomal recessive congenital ichthyosis 3 | 1 test |
Autosomal recessive congenital ichthyosis 4A | 1 test |
Autosomal recessive congenital ichthyosis 4B | 1 test |
Autosomal recessive congenital ichthyosis 5 | 1 test |
Autosomal recessive congenital ichthyosis 6 | 1 test |
Autosomal recessive congenital ichthyosis 8 | 1 test |
Autosomal recessive congenital ichthyosis 9 | 1 test |
Autosomal recessive cutis laxa type 2B | 1 test |
Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
Autosomal recessive distal spinal muscular atrophy 2 | 1 test |
Autosomal recessive early-onset Parkinson disease 23 | 1 test |
Autosomal recessive early-onset Parkinson disease 6 | 2 tests |
Autosomal recessive early-onset Parkinson disease 7 | 2 tests |
Autosomal recessive hypophosphatemic bone disease | 1 test |
Autosomal recessive inherited pseudoxanthoma elasticum | 1 test |
Autosomal recessive juvenile Parkinson disease 2 | 1 test |
Autosomal recessive keratitis-ichthyosis-deafness syndrome | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2O | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 test |
Autosomal recessive nonsyndromic hearing loss 12 | 1 test |
Autosomal recessive nonsyndromic hearing loss 16 | 1 test |
Autosomal recessive nonsyndromic hearing loss 18A | 1 test |
Autosomal recessive nonsyndromic hearing loss 1A | 6 tests |
Autosomal recessive nonsyndromic hearing loss 1B | 2 tests |
Autosomal recessive nonsyndromic hearing loss 2 | 1 test |
Autosomal recessive nonsyndromic hearing loss 22 | 1 test |
Autosomal recessive nonsyndromic hearing loss 23 | 1 test |
Autosomal recessive nonsyndromic hearing loss 31 | 1 test |
Autosomal recessive nonsyndromic hearing loss 4 | 1 test |
Autosomal recessive nonsyndromic hearing loss 48 | 1 test |
Autosomal recessive nonsyndromic hearing loss 77 | 1 test |
Autosomal recessive nonsyndromic hearing loss 86 | 1 test |
Autosomal recessive nonsyndromic hearing loss 97 | 1 test |
Autosomal recessive optic atrophy, OPA7 type | 1 test |
Autosomal recessive osteopetrosis 1 | 1 test |
Autosomal recessive osteopetrosis 2 | 1 test |
Autosomal recessive osteopetrosis 4 | 1 test |
Autosomal recessive osteopetrosis 5 | 1 test |
Autosomal recessive osteopetrosis 6 | 1 test |
Autosomal recessive osteopetrosis 7 | 1 test |
Autosomal recessive osteopetrosis 8 | 1 test |
Autosomal recessive proximal renal tubular acidosis | 1 test |
Autosomal recessive pseudohypoaldosteronism type 1 | 3 tests |
Autosomal recessive spastic paraplegia type 78 | 1 test |
Autosomal recessive spinocerebellar ataxia 10 | 1 test |
Autosomal recessive spinocerebellar ataxia 12 | 1 test |
Autosomal recessive spinocerebellar ataxia 13 | 1 test |
Autosomal recessive spinocerebellar ataxia 14 | 1 test |
Autosomal recessive spinocerebellar ataxia 16 | 1 test |
Autosomal recessive spinocerebellar ataxia 17 | 1 test |
Autosomal recessive spinocerebellar ataxia 2 | 1 test |
Autosomal recessive spinocerebellar ataxia 20 | 1 test |
Autosomal recessive spinocerebellar ataxia 7 | 1 test |
Avascular necrosis of femoral head, primary, 2 | 1 test |
Avellino corneal dystrophy | 1 test |
Ayme-Gripp syndrome | 1 test |
BAP1-related tumor predisposition syndrome | 1 test |
BLOOD GROUP--DIEGO SYSTEM | 1 test |
BLOOD GROUP--FROESE | 1 test |
BLOOD GROUP--SWANN SYSTEM | 1 test |
BLOOD GROUP--WALDNER TYPE | 1 test |
BLOOD GROUP--WRIGHT ANTIGEN | 1 test |
Baller-Gerold syndrome | 1 test |
Bardet-Biedl syndrome 1 | 2 tests |
Bardet-Biedl syndrome 11 | 1 test |
Bardet-Biedl syndrome 13 | 1 test |
Bardet-Biedl syndrome 14 | 2 tests |
Bardet-Biedl syndrome 15 | 1 test |
Bardet-Biedl syndrome 16 | 1 test |
Bardet-Biedl syndrome 17 | 1 test |
Bardet-Biedl syndrome 18 | 1 test |
Bardet-Biedl syndrome 19 | 1 test |
Bardet-Biedl syndrome 2 | 1 test |
Bardet-Biedl syndrome 20 | 1 test |
Bardet-Biedl syndrome 22 | 1 test |
Bardet-Biedl syndrome 3 | 1 test |
Bardet-Biedl syndrome 6 | 1 test |
Bardet-Biedl syndrome 8 | 1 test |
Bartter disease type 1 | 1 test |
Bartter disease type 2 | 1 test |
Bartter disease type 5 | 1 test |
Basal cell carcinoma, susceptibility to, 1 | 3 tests |
Basal cell carcinoma, susceptibility to, 7 | 2 tests |
Beaded hair | 3 tests |
Beare-Stevenson cutis gyrata syndrome | 1 test |
Beckwith-Wiedemann syndrome | 1 test |
Benign concentric annular macular dystrophy | 1 test |
Benign familial hematuria | 2 tests |
Bent bone dysplasia syndrome 1 | 1 test |
Beta-D-mannosidosis | 1 test |
Bethlem myopathy 1A | 1 test |
Bietti crystalline corneoretinal dystrophy | 1 test |
Bifunctional peroxisomal enzyme deficiency | 1 test |
Biotin-responsive basal ganglia disease | 1 test |
Birt-Hogg-Dube syndrome | 2 tests |
Blau syndrome | 1 test |
Blepharocheilodontic syndrome 1 | 2 tests |
Blepharophimosis - intellectual disability syndrome, MKB type | 1 test |
Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 test |
Bloom syndrome | 1 test |
Bone marrow failure syndrome 5 | 2 tests |
Bone mineral density quantitative trait locus 1 | 1 test |
Bone mineral density quantitative trait locus 18 | 1 test |
Bone osteosarcoma | 5 tests |
Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 test |
Bothnia retinal dystrophy | 1 test |
Brachydactyly type A1A | 1 test |
Brachydactyly type A1D | 1 test |
Brachydactyly type B1 | 1 test |
Brachydactyly type B2 | 1 test |
Brachydactyly type D | 1 test |
Brachydactyly type E1 | 1 test |
Brachydactyly type E2 | 1 test |
Brachydactyly-arterial hypertension syndrome | 1 test |
Brachydactyly-elbow wrist dysplasia syndrome | 1 test |
Brachydactyly-syndactyly syndrome | 1 test |
Brachyolmia-amelogenesis imperfecta syndrome | 1 test |
Brachyrachia (short spine dysplasia) | 1 test |
Bradyopsia | 2 tests |
Branchiooculofacial syndrome | 1 test |
Branchiootic syndrome 3 | 1 test |
Branchiootorenal syndrome 2 | 1 test |
Breast-ovarian cancer, familial, susceptibility to, 1 | 2 tests |
Breast-ovarian cancer, familial, susceptibility to, 2 | 2 tests |
Breast-ovarian cancer, familial, susceptibility to, 3 | 2 tests |
Breast-ovarian cancer, familial, susceptibility to, 4 | 2 tests |
Brittle cornea syndrome 1 | 1 test |
Brittle cornea syndrome 2 | 1 test |
Bronchiectasis with or without elevated sweat chloride 1 | 3 tests |
Bronchiectasis with or without elevated sweat chloride 2 | 1 test |
Bronchiectasis with or without elevated sweat chloride 3 | 1 test |
Brooke-Spiegler syndrome | 1 test |
Bruck syndrome 2 | 1 test |
Brugada syndrome 1 | 2 tests |
Brugada syndrome 2 | 1 test |
Brugada syndrome 3 | 1 test |
Brugada syndrome 4 | 1 test |
Brugada syndrome 5 | 1 test |
Brugada syndrome 7 | 1 test |
Brugada syndrome 9 | 1 test |
C1Q deficiency | 3 tests |
CARASIL syndrome | 1 test |
CBL-related disorder | 1 test |
CEDNIK syndrome | 1 test |
CHARGE association | 1 test |
CK syndrome | 1 test |
CLAPO syndrome | 1 test |
CLOVES syndrome | 1 test |
COACH syndrome 1 | 1 test |
COACH syndrome 3 | 1 test |
CODAS syndrome | 1 test |
Café-au-lait macules with pulmonary stenosis | 2 tests |
Calvarial doughnut lesions-bone fragility syndrome | 1 test |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 test |
Camptomelic dysplasia | 2 tests |
Capillary infantile hemangioma | 1 test |
Capillary malformation-arteriovenous malformation 1 | 2 tests |
Capillary malformation-arteriovenous malformation 2 | 1 test |
Carcinoma of pancreas | 7 tests |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 test |
Cardiac arrhythmia, ankyrin-B-related | 1 test |
Cardiac valvular defect, developmental | 1 test |
Cardiac valvular dysplasia, X-linked | 2 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 1 test |
Cardiofaciocutaneous syndrome 1 | 1 test |
Cardiofaciocutaneous syndrome 2 | 1 test |
Cardiofaciocutaneous syndrome 3 | 1 test |
Cardiofaciocutaneous syndrome 4 | 1 test |
Cardiomyopathy, dilated, 2E | 1 test |
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2 tests |
Cardiomyopathy, familial restrictive, 1 | 1 test |
Cardiomyopathy, familial restrictive, 3 | 1 test |
Cardiomyopathy-hypotonia-lactic acidosis syndrome | 1 test |
Cardiospondylocarpofacial syndrome | 1 test |
Carney complex, type 1 | 2 tests |
Carney-Stratakis syndrome | 3 tests |
Carnitine acylcarnitine translocase deficiency | 1 test |
Carpal tunnel syndrome 1 | 1 test |
Cataract 1 multiple types | 1 test |
Cataract 11 multiple types | 1 test |
Cataract 15 multiple types | 1 test |
Cataract 19 multiple types | 1 test |
Cataract 20 multiple types | 1 test |
Cataract 21 multiple types | 1 test |
Cataract 30 | 1 test |
Cataract 34 multiple types | 1 test |
Cataract 36 | 1 test |
Cataract 38 | 1 test |
Cataract 40 | 1 test |
Cataract 41 | 2 tests |
Cataract 43 | 1 test |
Cataract 44 | 1 test |
Cataract 45 | 1 test |
Cataract 46 juvenile-onset | 1 test |
Cataract 49 | 1 test |
Cataract 5 multiple types | 1 test |
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 1 | 2 tests |
Catecholaminergic polymorphic ventricular tachycardia 2 | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 3 | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 4 | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 5 | 1 test |
Cenani-Lenz syndactyly syndrome | 1 test |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 1 test |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 1 test |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2 tests |
Cerebellar ataxia-hypogonadism syndrome | 1 test |
Cerebellar atrophy, developmental delay, and seizures | 1 test |
Cerebellar atrophy, visual impairment, and psychomotor retardation; | 1 test |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 test |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 test |
Cerebral arteriovenous malformation | 1 test |
Cerebral cavernous malformation | 2 tests |
Cerebral cavernous malformation 2 | 2 tests |
Cerebral cavernous malformation 3 | 2 tests |
Cerebral palsy, spastic quadriplegic, 2 | 1 test |
Cerebro-costo-mandibular syndrome | 1 test |
Cerebrooculofacioskeletal syndrome 2 | 1 test |
Cerebroretinal microangiopathy with calcifications and cysts 2 | 1 test |
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 test |
Cervical cancer | 1 test |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 test |
Charcot-Marie-Tooth disease X-linked dominant 1 | 1 test |
Charcot-Marie-Tooth disease X-linked recessive 5 | 1 test |
Charcot-Marie-Tooth disease axonal type 2C | 1 test |
Charcot-Marie-Tooth disease axonal type 2F | 1 test |
Charcot-Marie-Tooth disease axonal type 2L | 1 test |
Charcot-Marie-Tooth disease axonal type 2S | 1 test |
Charcot-Marie-Tooth disease axonal type 2T | 1 test |
Charcot-Marie-Tooth disease axonal type 2V | 1 test |
Charcot-Marie-Tooth disease axonal type 2X | 1 test |
Charcot-Marie-Tooth disease dominant intermediate D | 1 test |
Charcot-Marie-Tooth disease dominant intermediate E | 1 test |
Charcot-Marie-Tooth disease type 1B | 1 test |
Charcot-Marie-Tooth disease type 1C | 1 test |
Charcot-Marie-Tooth disease type 1E | 2 tests |
Charcot-Marie-Tooth disease type 1F | 1 test |
Charcot-Marie-Tooth disease type 2A1 | 1 test |
Charcot-Marie-Tooth disease type 2A2 | 1 test |
Charcot-Marie-Tooth disease type 2B | 1 test |
Charcot-Marie-Tooth disease type 2B1 | 1 test |
Charcot-Marie-Tooth disease type 2B2 | 1 test |
Charcot-Marie-Tooth disease type 2E | 1 test |
Charcot-Marie-Tooth disease type 2I | 1 test |
Charcot-Marie-Tooth disease type 2J | 1 test |
Charcot-Marie-Tooth disease type 2Y | 1 test |
Charcot-Marie-Tooth disease type 4C | 1 test |
Charcot-Marie-Tooth disease type 4D | 1 test |
Charcot-Marie-Tooth disease type 4F | 1 test |
Charcot-Marie-Tooth disease type 4G | 1 test |
Charcot-Marie-Tooth disease, axonal, Type 2HH | 1 test |
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 test |
Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 test |
Charcot-Marie-Tooth disease, dominant intermediate G | 1 test |
Charcot-Marie-Tooth disease, type IA | 2 tests |
Charlevoix-Saguenay spastic ataxia | 1 test |
Chilblain lupus 1 | 1 test |
Chilblain lupus 2 | 1 test |
Child syndrome | 1 test |
Childhood onset GLUT1 deficiency syndrome 2 | 1 test |
Cholestasis-pigmentary retinopathy-cleft palate syndrome | 1 test |
Chondrodysplasia Blomstrand type | 1 test |
Chondrodysplasia punctata 2 X-linked dominant | 1 test |
Chorea-acanthocytosis | 1 test |
Choroid plexus papilloma | 2 tests |
Choroidal dystrophy, central areolar 2 | 2 tests |
Choroidal dystrophy, central areolar, 1 | 1 test |
Choroideremia | 2 tests |
Christianson syndrome | 1 test |
Chromosome 2p16.3 deletion syndrome | 1 test |
Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
Chuvash polycythemia | 2 tests |
Chédiak-Higashi syndrome | 1 test |
Clark-Baraitser syndrome | 1 test |
Classic dopamine transporter deficiency syndrome | 1 test |
Cleidocranial dysostosis | 1 test |
Clubfoot | 1 test |
Cobblestone lissencephaly without muscular or ocular involvement | 1 test |
Coenzyme Q10 deficiency, primary, 3 | 1 test |
Coenzyme q10 deficiency, primary, 9 | 1 test |
Coffin-Siris syndrome 1 | 1 test |
Coffin-Siris syndrome 10 | 1 test |
Coffin-Siris syndrome 5 | 1 test |
Coffin-Siris syndrome 8 | 1 test |
Cognitive impairment with or without cerebellar ataxia | 1 test |
Cohen syndrome | 1 test |
Cole-Carpenter syndrome 1 | 1 test |
Cole-Carpenter syndrome 2 | 1 test |
Coloboma of optic nerve | 1 test |
Coloboma, ocular, autosomal dominant | 1 test |
Colorectal cancer | 14 tests |
Colorectal cancer, hereditary nonpolyposis, type 2 | 2 tests |
Colorectal cancer, hereditary nonpolyposis, type 6 | 2 tests |
Colorectal cancer, susceptibility to, 10 | 2 tests |
Colorectal cancer, susceptibility to, 12 | 2 tests |
Combined PSAP deficiency | 1 test |
Combined immunodeficiency due to ORAI1 deficiency | 1 test |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 test |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 2 tests |
Combined oxidative phosphorylation defect type 25 | 1 test |
Combined oxidative phosphorylation defect type 7 | 1 test |
Combined oxidative phosphorylation deficiency 28 | 1 test |
Complex cortical dysplasia with other brain malformations 1 | 1 test |
Complex cortical dysplasia with other brain malformations 2 | 1 test |
Complex cortical dysplasia with other brain malformations 3 | 1 test |
Complex cortical dysplasia with other brain malformations 4 | 1 test |
Complex cortical dysplasia with other brain malformations 5 | 1 test |
Complex cortical dysplasia with other brain malformations 6 | 1 test |
Complex cortical dysplasia with other brain malformations 7 | 1 test |
Cone dystrophy 4 | 1 test |
Cone dystrophy with supernormal rod response | 1 test |
Cone-rod dystrophy 10 | 1 test |
Cone-rod dystrophy 11 | 1 test |
Cone-rod dystrophy 12 | 1 test |
Cone-rod dystrophy 13 | 1 test |
Cone-rod dystrophy 15 | 1 test |
Cone-rod dystrophy 18 | 1 test |
Cone-rod dystrophy 19 | 1 test |
Cone-rod dystrophy 2 | 1 test |
Cone-rod dystrophy 20 | 1 test |
Cone-rod dystrophy 22 | 1 test |
Cone-rod dystrophy 3 | 2 tests |
Cone-rod dystrophy 5 | 1 test |
Cone-rod dystrophy 6 | 1 test |
Cone-rod dystrophy 7 | 1 test |
Cone-rod dystrophy 9 | 1 test |
Cone-rod dystrophy and hearing loss 1 | 1 test |
Cone-rod dystrophy and hearing loss 2 | 1 test |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 test |
Congenital adrenal hypoplasia, X-linked | 1 test |
Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 tests |
Congenital bile acid synthesis defect 5 | 1 test |
Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 test |
Congenital contractural arachnodactyly | 1 test |
Congenital diarrhea 5 with tufting enteropathy | 2 tests |
Congenital disorder of deglycosylation 1 | 1 test |
Congenital heart defects and ectodermal dysplasia | 1 test |
Congenital heart defects, multiple types, 2 | 1 test |
Congenital heart defects, multiple types, 4 | 1 test |
Congenital heart defects, multiple types, 5 | 1 test |
Congenital heart defects, multiple types, 7 | 1 test |
Congenital hereditary endothelial dystrophy of cornea | 1 test |
Congenital hypotrichosis with juvenile macular dystrophy | 1 test |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 test |
Congenital macrodactylia | 1 test |
Congenital muscular dystrophy due to LMNA mutation | 1 test |
Congenital muscular hypertrophy-cerebral syndrome | 1 test |
Congenital myasthenic syndrome 13 | 1 test |
Congenital myasthenic syndrome 16 | 1 test |
Congenital myasthenic syndrome 17 | 1 test |
Congenital myasthenic syndrome 7 | 1 test |
Congenital primary aphakia | 1 test |
Congenital reticular ichthyosiform erythroderma | 1 test |
Congenital sensory neuropathy with selective loss of small myelinated fibers | 1 test |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 test |
Congenital stationary night blindness 1A | 1 test |
Congenital stationary night blindness 1B | 1 test |
Congenital stationary night blindness 1C | 2 tests |
Congenital stationary night blindness 1D | 1 test |
Congenital stationary night blindness 1F | 1 test |
Congenital stationary night blindness 1G | 1 test |
Congenital stationary night blindness 2A | 1 test |
Congenital stationary night blindness autosomal dominant 1 | 2 tests |
Congenital stationary night blindness autosomal dominant 2 | 1 test |
Congenital stationary night blindness autosomal dominant 3 | 1 test |
Congenital stromal corneal dystrophy | 1 test |
Conotruncal heart malformations | 3 tests |
Corneal dystrophy, Fuchs endothelial, 1 | 1 test |
Corneal dystrophy, Fuchs endothelial, 3 | 2 tests |
Corneal dystrophy, Fuchs endothelial, 4 | 1 test |
Corneal dystrophy, Fuchs endothelial, 6 | 1 test |
Corneal dystrophy, Fuchs endothelial, 8 | 1 test |
Corneal dystrophy, Meesmann, 1 | 1 test |
Corneal dystrophy, Meesmann, 2 | 1 test |
Corneal dystrophy, lattice type 3A | 1 test |
Corneal dystrophy-perceptive deafness syndrome | 1 test |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 1 test |
Cornelia de Lange syndrome 1 | 1 test |
Cornelia de Lange syndrome 3 | 1 test |
Cornelia de Lange syndrome 4 | 1 test |
Corpus callosum agenesis-abnormal genitalia syndrome | 1 test |
Cortical dysplasia, complex, with other brain malformations 9 | 1 test |
Cortical dysplasia-focal epilepsy syndrome | 1 test |
Costello syndrome | 1 test |
Cowden syndrome 1 | 2 tests |
Cowden syndrome 5 | 1 test |
Cowden syndrome 6 | 1 test |
Coxopodopatellar syndrome | 1 test |
Craniodiaphyseal dysplasia, autosomal dominant | 1 test |
Cranioectodermal dysplasia 1 | 1 test |
Cranioectodermal dysplasia 2 | 1 test |
Cranioectodermal dysplasia 3 | 1 test |
Cranioectodermal dysplasia 4 | 1 test |
Craniofacial anomalies and anterior segment dysgenesis syndrome | 1 test |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 1 test |
Craniofacial-deafness-hand syndrome | 1 test |
Craniometaphyseal dysplasia, autosomal recessive | 1 test |
Craniosynostosis 2 | 1 test |
Craniosynostosis 5, susceptibility to | 1 test |
Craniosynostosis 6 | 1 test |
Craniosynostosis 7 | 1 test |
Craniosynostosis and dental anomalies | 1 test |
Crouzon syndrome | 1 test |
Crouzon syndrome-acanthosis nigricans syndrome | 1 test |
Cryohydrocytosis | 1 test |
Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 1 test |
Currarino triad | 1 test |
Curry-Hall syndrome | 1 test |
Cutis laxa, autosomal dominant 1 | 1 test |
Cutis laxa, autosomal recessive, type 1B | 1 test |
Cyclical neutropenia | 1 test |
Cystic fibrosis | 3 tests |
Cystic leukoencephalopathy without megalencephaly | 1 test |
Cystinuria | 2 tests |
DOORS syndrome | 1 test |
DPAGT1-congenital disorder of glycosylation | 1 test |
Danon disease | 1 test |
DeSanto-Shinawi syndrome due to WAC point mutation | 1 test |
Deafness dystonia syndrome | 1 test |
Deafness, congenital heart defects, and posterior embryotoxon | 1 test |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 1 test |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
Deficiency of alpha-mannosidase | 1 test |
Deficiency of hyaluronoglucosaminidase | 1 test |
Deficiency of phosphoserine phosphatase | 1 test |
Dejerine-Sottas disease | 4 tests |
Dent disease type 2 | 1 test |
Dermatitis, atopic, 2 | 1 test |
Dermatofibrosis lenticularis disseminata | 1 test |
Dermatopathia pigmentosa reticularis | 2 tests |
Desbuquois dysplasia 2 | 1 test |
Desmin-related myofibrillar myopathy | 1 test |
Desmoid disease, hereditary | 2 tests |
Developmental and epileptic encephalopathy 6B | 1 test |
Developmental and epileptic encephalopathy 98 | 1 test |
Developmental and epileptic encephalopathy 99 | 2 tests |
Developmental and epileptic encephalopathy, 1 | 1 test |
Developmental and epileptic encephalopathy, 11 | 1 test |
Developmental and epileptic encephalopathy, 12 | 1 test |
Developmental and epileptic encephalopathy, 13 | 1 test |
Developmental and epileptic encephalopathy, 14 | 1 test |
Developmental and epileptic encephalopathy, 15 | 1 test |
Developmental and epileptic encephalopathy, 16 | 1 test |
Developmental and epileptic encephalopathy, 18 | 1 test |
Developmental and epileptic encephalopathy, 21 | 1 test |
Developmental and epileptic encephalopathy, 25 | 1 test |
Developmental and epileptic encephalopathy, 26 | 1 test |
Developmental and epileptic encephalopathy, 28 | 1 test |
Developmental and epileptic encephalopathy, 3 | 1 test |
Developmental and epileptic encephalopathy, 30 | 1 test |
Developmental and epileptic encephalopathy, 32 | 1 test |
Developmental and epileptic encephalopathy, 34 | 1 test |
Developmental and epileptic encephalopathy, 35 | 1 test |
Developmental and epileptic encephalopathy, 39 | 1 test |
Developmental and epileptic encephalopathy, 4 | 1 test |
Developmental and epileptic encephalopathy, 41 | 1 test |
Developmental and epileptic encephalopathy, 42 | 1 test |
Developmental and epileptic encephalopathy, 44 | 1 test |
Developmental and epileptic encephalopathy, 49 | 1 test |
Developmental and epileptic encephalopathy, 5 | 1 test |
Developmental and epileptic encephalopathy, 51 | 1 test |
Developmental and epileptic encephalopathy, 52 | 1 test |
Developmental and epileptic encephalopathy, 53 | 1 test |
Developmental and epileptic encephalopathy, 54 | 1 test |
Developmental and epileptic encephalopathy, 55 | 1 test |
Developmental and epileptic encephalopathy, 56 | 1 test |
Developmental and epileptic encephalopathy, 57 | 1 test |
Developmental and epileptic encephalopathy, 58 | 1 test |
Developmental and epileptic encephalopathy, 62 | 1 test |
Developmental and epileptic encephalopathy, 64 | 1 test |
Developmental and epileptic encephalopathy, 66 | 1 test |
Developmental and epileptic encephalopathy, 67 | 1 test |
Developmental and epileptic encephalopathy, 68 | 1 test |
Developmental and epileptic encephalopathy, 7 | 1 test |
Developmental and epileptic encephalopathy, 70 | 1 test |
Developmental and epileptic encephalopathy, 72 | 1 test |
Developmental and epileptic encephalopathy, 73 | 1 test |
Developmental and epileptic encephalopathy, 75 | 1 test |
Developmental and epileptic encephalopathy, 77 | 1 test |
Developmental and epileptic encephalopathy, 79 | 1 test |
Developmental and epileptic encephalopathy, 8 | 1 test |
Developmental and epileptic encephalopathy, 80 | 1 test |
Developmental and epileptic encephalopathy, 82 | 1 test |
Developmental and epileptic encephalopathy, 83 | 1 test |
Developmental and epileptic encephalopathy, 84 | 1 test |
Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 test |
Developmental and epileptic encephalopathy, 88 | 1 test |
Developmental and epileptic encephalopathy, 9 | 1 test |
Developmental delay and seizures with or without movement abnormalities | 1 test |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 test |
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 test |
DiGeorge syndrome | 1 test |
Diabetes insipidus, nephrogenic, X-linked | 1 test |
Diabetes insipidus, nephrogenic, autosomal | 1 test |
Diaphragmatic hernia 3 | 1 test |
Diaphyseal dysplasia | 1 test |
Diaphyseal medullary stenosis-bone malignancy syndrome | 1 test |
Diastrophic dysplasia | 1 test |
Dicarboxylic aminoaciduria | 1 test |
Diffuse nonepidermolytic palmoplantar keratoderma | 1 test |
Dilated cardiomyopathy 1A | 1 test |
Dilated cardiomyopathy 1BB | 2 tests |
Dilated cardiomyopathy 1C | 1 test |
Dilated cardiomyopathy 1CC | 1 test |
Dilated cardiomyopathy 1D | 1 test |
Dilated cardiomyopathy 1DD | 1 test |
Dilated cardiomyopathy 1E | 2 tests |
Dilated cardiomyopathy 1EE | 1 test |
Dilated cardiomyopathy 1FF | 1 test |
Dilated cardiomyopathy 1G | 1 test |
Dilated cardiomyopathy 1GG | 2 tests |
Dilated cardiomyopathy 1HH | 1 test |
Dilated cardiomyopathy 1I | 1 test |
Dilated cardiomyopathy 1JJ | 1 test |
Dilated cardiomyopathy 1KK | 1 test |
Dilated cardiomyopathy 1L | 1 test |
Dilated cardiomyopathy 1NN | 1 test |
Dilated cardiomyopathy 1O | 1 test |
Dilated cardiomyopathy 1P | 1 test |
Dilated cardiomyopathy 1R | 1 test |
Dilated cardiomyopathy 1S | 1 test |
Dilated cardiomyopathy 1U | 2 tests |
Dilated cardiomyopathy 1V | 1 test |
Dilated cardiomyopathy 1W | 1 test |
Dilated cardiomyopathy 1Y | 1 test |
Dilated cardiomyopathy 1Z | 1 test |
Dilated cardiomyopathy 2A | 1 test |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 1 test |
Distal myopathy, Tateyama type | 1 test |
Dominant dystrophic epidermolysis bullosa with absence of skin | 2 tests |
Donnai-Barrow syndrome | 1 test |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 test |
Dowling-Degos disease 1 | 2 tests |
Drash syndrome | 1 test |
Duane-radial ray syndrome | 1 test |
Dystonia 12 | 2 tests |
Dystonia 16 | 2 tests |
Dystonia 27 | 1 test |
Dystonia 28, childhood-onset | 1 test |
Dystonia 32 | 1 test |
Dystonia 5 | 2 tests |
Dystonia 9 | 1 test |
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 1 test |
EAST syndrome | 1 test |
EEM syndrome | 1 test |
Early-onset Lafora body disease | 1 test |
Early-onset Parkinson disease 20 | 1 test |
Early-onset generalized limb-onset dystonia | 2 tests |
Early-onset myopathy with fatal cardiomyopathy | 1 test |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 1 test |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 2 tests |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 1 test |
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 test |
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | 1 test |
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 1 test |
Ectodermal dysplasia and immunodeficiency 1 | 1 test |
Ectopia lentis 1, isolated, autosomal dominant | 2 tests |
Ectopia lentis 2, isolated, autosomal recessive | 1 test |
Ectopia lentis et pupillae | 1 test |
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 1 test |
Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 tests |
Ehlers-Danlos syndrome, arthrochalasia type | 1 test |
Ehlers-Danlos syndrome, cardiac valvular type | 2 tests |
Ehlers-Danlos syndrome, classic type, 1 | 2 tests |
Ehlers-Danlos syndrome, classic type, 2 | 1 test |
Ehlers-Danlos syndrome, dermatosparaxis type | 1 test |
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | 1 test |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 test |
Ehlers-Danlos syndrome, musculocontractural type 1 | 1 test |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | 1 test |
Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 1 test |
Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 1 test |
Ehlers-Danlos syndrome, type 4 | 2 tests |
Ehlers-danlos syndrome, arthrochalasia type, 2 | 2 tests |
Eiken syndrome | 1 test |
Elevated circulating creatine kinase concentration | 1 test |
Ellis-van Creveld syndrome | 1 test |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 test |
Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 1 test |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 test |
Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 test |
Encephalopathy due to GLUT1 deficiency | 1 test |
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 1 test |
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 test |
Endometrial carcinoma | 5 tests |
Enhanced S-cone syndrome | 1 test |
Epidermal nevus | 4 tests |
Epidermolysis bullosa pruriginosa | 2 tests |
Epidermolysis bullosa simplex 1A, generalized severe | 2 tests |
Epidermolysis bullosa simplex 1C, localized | 2 tests |
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 2 tests |
Epidermolysis bullosa simplex 2A, generalized severe | 2 tests |
Epidermolysis bullosa simplex 2B, generalized intermediate | 2 tests |
Epidermolysis bullosa simplex 2C, localized | 2 tests |
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | 2 tests |
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 1 test |
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 1 test |
Epidermolysis bullosa simplex 5B, with muscular dystrophy | 1 test |
Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 test |
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | 1 test |
Epidermolysis bullosa simplex 7, with nephropathy and deafness | 1 test |
Epidermolysis bullosa simplex due to plakophilin deficiency | 1 test |
Epidermolysis bullosa simplex with migratory circinate erythema | 2 tests |
Epidermolysis bullosa simplex with mottled pigmentation | 2 tests |
Epidermolysis bullosa simplex with nail dystrophy | 1 test |
Epidermolysis bullosa simplex, Koebner type | 2 tests |
Epidermolysis bullosa simplex, Ogna type | 1 test |
Epidermolysis bullosa, junctional 2A, intermediate | 1 test |
Epidermolysis bullosa, junctional 2B, severe | 1 test |
Epidermolysis bullosa, junctional 3A, intermediate | 1 test |
Epidermolysis bullosa, junctional 3B, severe | 1 test |
Epidermolysis bullosa, junctional 4, intermediate | 1 test |
Epidermolysis bullosa, junctional 5A, intermediate | 1 test |
Epidermolysis bullosa, junctional 6, with pyloric atresia | 1 test |
Epidermolytic hyperkeratosis 1 | 2 tests |
Epidermolytic palmoplantar keratoderma | 2 tests |
Epilepsy, early-onset, vitamin B6-dependent | 1 test |
Epilepsy, familial focal, with variable foci 2 | 1 test |
Epilepsy, familial focal, with variable foci 3 | 1 test |
Epilepsy, familial focal, with variable foci 4 | 1 test |
Epilepsy, familial temporal lobe, 1 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 16 | 1 test |
Epilepsy, progressive myoclonic, 11 | 1 test |
Epilepsy, progressive myoclonic, 12 | 1 test |
Epilepsy, progressive myoclonic, 1B | 1 test |
Epileptic encephalopathy, infantile or early childhood, 1 | 1 test |
Episodic ataxia type 1 | 1 test |
Episodic ataxia type 2 | 1 test |
Episodic ataxia type 6 | 1 test |
Episodic ataxia, type 9 | 1 test |
Episodic kinesigenic dyskinesia 1 | 1 test |
Episodic pain syndrome, familial, 2 | 1 test |
Epithelial basement membrane dystrophy | 1 test |
Epithelial recurrent erosion dystrophy | 1 test |
Epsilon-trimethyllysine hydroxylase deficiency | 1 test |
Erythrokeratodermia variabilis et progressiva 1 | 2 tests |
Erythrokeratodermia variabilis et progressiva 2 | 1 test |
Erythrokeratodermia variabilis et progressiva 3 | 1 test |
Erythrokeratodermia variabilis et progressiva 4 | 1 test |
Erythrokeratodermia variabilis et progressiva 5 | 1 test |
Erythrokeratodermia variabilis et progressiva 7 | 1 test |
Euthyroid goiter | 1 test |
Even-plus syndrome | 1 test |
Exudative vitreoretinopathy 2, X-linked | 1 test |
Exudative vitreoretinopathy 4 | 1 test |
Exudative vitreoretinopathy 6 | 1 test |
Exudative vitreoretinopathy 7 | 1 test |
FG syndrome 1 | 1 test |
FG syndrome 2 | 2 tests |
Fabry disease | 1 test |
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 2 tests |
Familial Mediterranean fever | 1 test |
Familial Mediterranean fever, autosomal dominant | 1 test |
Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 tests |
Familial adenomatous polyposis 1 | 2 tests |
Familial adenomatous polyposis 2 | 2 tests |
Familial adenomatous polyposis 3 | 1 test |
Familial adenomatous polyposis 4 | 1 test |
Familial amyloid nephropathy with urticaria AND deafness | 1 test |
Familial amyloid neuropathy | 1 test |
Familial apolipoprotein C-II deficiency | 1 test |
Familial atrial myxoma | 2 tests |
Familial benign pemphigus | 1 test |
Familial cancer of breast | 18 tests |
Familial cold autoinflammatory syndrome 1 | 1 test |
Familial cold autoinflammatory syndrome 2 | 1 test |
Familial cold autoinflammatory syndrome 3 | 1 test |
Familial cold autoinflammatory syndrome 4 | 1 test |
Familial cylindromatosis | 1 test |
Familial digital arthropathy-brachydactyly | 1 test |
Familial encephalopathy with neuroserpin inclusion bodies | 1 test |
Familial episodic pain syndrome with predominantly lower limb involvement | 1 test |
Familial episodic pain syndrome with predominantly upper body involvement | 1 test |
Familial expansile osteolysis | 1 test |
Familial hemophagocytic lymphohistiocytosis 2 | 1 test |
Familial hemophagocytic lymphohistiocytosis 3 | 1 test |
Familial hemophagocytic lymphohistiocytosis 4 | 1 test |
Familial hemophagocytic lymphohistiocytosis 5 | 1 test |
Familial hyperaldosteronism type III | 1 test |
Familial hypobetalipoproteinemia 1 | 1 test |
Familial hypocalciuric hypercalcemia 2 | 1 test |
Familial hypokalemia-hypomagnesemia | 1 test |
Familial infantile myoclonic epilepsy | 1 test |
Familial isolated deficiency of vitamin E | 1 test |
Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
Familial juvenile hyperuricemic nephropathy type 2 | 1 test |
Familial medullary thyroid carcinoma | 2 tests |
Familial meningioma | 6 tests |
Familial multiple nevi flammei | 1 test |
Familial partial lipodystrophy, Dunnigan type | 1 test |
Familial scaphocephaly syndrome, McGillivray type | 1 test |
Familial spontaneous pneumothorax | 2 tests |
Familial temporal lobe epilepsy 7 | 1 test |
Familial type 3 hyperlipoproteinemia | 1 test |
Familial type 5 hyperlipoproteinemia | 1 test |
Familial visceral amyloidosis, Ostertag type | 1 test |
Fanconi anemia complementation group B | 1 test |
Fanconi anemia complementation group C | 1 test |
Fanconi anemia complementation group D1 | 2 tests |
Fanconi anemia complementation group J | 2 tests |
Fanconi anemia complementation group N | 2 tests |
Fanconi anemia complementation group O | 2 tests |
Fanconi anemia complementation group P | 1 test |
Fanconi anemia complementation group T | 1 test |
Fanconi anemia complementation group U | 1 test |
Fanconi anemia, complementation group S | 2 tests |
Fanconi renotubular syndrome 2 | 1 test |
Fanconi-Bickel syndrome | 1 test |
Fasting plasma glucose level quantitative trait locus 5 | 1 test |
Fatal familial insomnia | 1 test |
Febrile seizures, familial, 4 | 1 test |
Feingold syndrome type 1 | 1 test |
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 1 test |
Fibromatosis, gingival, 1 | 1 test |
Fibromuscular dysplasia, multifocal | 2 tests |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 test |
Fibrous dysplasia of jaw | 1 test |
Finnish congenital nephrotic syndrome | 1 test |
Fish-eye disease | 1 test |
Fleck corneal dystrophy | 1 test |
Floating-Harbor syndrome | 1 test |
Focal dermal hypoplasia | 1 test |
Focal segmental glomerulosclerosis 2 | 1 test |
Focal segmental glomerulosclerosis 5 | 1 test |
Focal segmental glomerulosclerosis 6 | 1 test |
Focal segmental glomerulosclerosis 7 | 1 test |
Foveal hypoplasia 1 | 1 test |
Frank-Ter Haar syndrome | 1 test |
Fraser syndrome 3 | 1 test |
Frasier syndrome | 1 test |
Frontometaphyseal dysplasia 1 | 2 tests |
Frontometaphyseal dysplasia 2 | 1 test |
Frontonasal dysplasia with alopecia and genital anomaly | 1 test |
Frontorhiny | 1 test |
Frontotemporal dementia | 3 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 test |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 test |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 test |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 test |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 | 1 test |
Fuhrmann syndrome | 1 test |
Fumarase deficiency | 1 test |
GM1 gangliosidosis type 2 | 1 test |
GM1 gangliosidosis type 3 | 1 test |
GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 2 tests |
Gallbladder disease 4 | 1 test |
Galloway-Mowat syndrome 1 | 1 test |
Galloway-Mowat syndrome 7 | 1 test |
Galloway-Mowat syndrome 8 | 1 test |
Gastric adenocarcinoma and proximal polyposis of the stomach | 2 tests |
Gastric cancer | 8 tests |
Gastrointestinal stromal tumor | 2 tests |
Gaucher disease due to saposin C deficiency | 1 test |
Geleophysic dysplasia 1 | 1 test |
Geleophysic dysplasia 2 | 2 tests |
Geleophysic dysplasia 3 | 1 test |
Generalized dominant dystrophic epidermolysis bullosa | 2 tests |
Generalized epilepsy with febrile seizures plus, type 1 | 1 test |
Generalized epilepsy with febrile seizures plus, type 2 | 1 test |
Generalized epilepsy with febrile seizures plus, type 9 | 1 test |
Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 test |
Genitopatellar syndrome | 1 test |
Germ cell tumor of testis | 3 tests |
Gerstmann-Straussler-Scheinker syndrome | 1 test |
Ghosal hematodiaphyseal dysplasia | 1 test |
Gillespie syndrome | 1 test |
Glaucoma 3, primary congenital, E | 1 test |
Glaucoma, normal tension, susceptibility to | 3 tests |
Glioma susceptibility 1 | 2 tests |
Glioma susceptibility 2 | 2 tests |
Glioma susceptibility 3 | 2 tests |
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 1 test |
Global developmental delay with speech and behavioral abnormalities | 1 test |
Glomerulopathy with fibronectin deposits 2 | 1 test |
Glomuvenous malformation | 1 test |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 test |
Gnathodiaphyseal dysplasia | 1 test |
Gorlin syndrome | 2 tests |
Graft-versus-host disease, susceptibility to | 1 test |
Grange syndrome | 1 test |
Greenberg dysplasia | 1 test |
Griscelli syndrome type 2 | 1 test |
Groenouw corneal dystrophy type I | 1 test |
Growth delay due to insulin-like growth factor I resistance | 1 test |
Growth delay due to insulin-like growth factor type 1 deficiency | 1 test |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 test |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 test |
Guillain-Barre syndrome, familial | 2 tests |
Guttmacher syndrome | 1 test |
H syndrome | 1 test |
Haim-Munk syndrome | 1 test |
Hair morphology 1 | 1 test |
Hajdu-Cheney syndrome | 1 test |
Hand-foot-genital syndrome | 1 test |
Hao-Fountain syndrome | 1 test |
Hearing loss, X-linked 1 | 1 test |
Hearing loss, autosomal dominant 34, with or without inflammation | 1 test |
Hearing loss, autosomal recessive 57 | 1 test |
Heart defect - tongue hamartoma - polysyndactyly syndrome | 1 test |
Heart-hand syndrome, Slovenian type | 1 test |
Heimler syndrome 1 | 1 test |
Heimler syndrome 2 | 1 test |
Helicoid peripapillary chorioretinal degeneration | 1 test |
Hemochromatosis type 1 | 1 test |
Hemolytic anemia due to hexokinase deficiency | 1 test |
Hepatitis B virus, susceptibility to | 1 test |
Hepatocellular carcinoma | 7 tests |
Hereditary cryohydrocytosis with reduced stomatin | 1 test |
Hereditary diffuse gastric adenocarcinoma | 2 tests |
Hereditary disease | 95 tests |
Hereditary insensitivity to pain with anhidrosis | 1 test |
Hereditary leiomyomatosis and renal cell cancer | 1 test |
Hereditary liability to pressure palsies | 2 tests |
Hereditary lymphedema type I | 1 test |
Hereditary motor and sensory neuropathy, Okinawa type | 1 test |
Hereditary mucoepithelial dysplasia | 1 test |
Hereditary pancreatitis | 4 tests |
Hereditary sensory and autonomic neuropathy type 6 | 1 test |
Hereditary sensory and autonomic neuropathy type 7 | 1 test |
Hereditary spastic paraplegia 10 | 1 test |
Hereditary spastic paraplegia 11 | 1 test |
Hereditary spastic paraplegia 12 | 1 test |
Hereditary spastic paraplegia 13 | 1 test |
Hereditary spastic paraplegia 15 | 1 test |
Hereditary spastic paraplegia 2 | 1 test |
Hereditary spastic paraplegia 26 | 1 test |
Hereditary spastic paraplegia 30 | 1 test |
Hereditary spastic paraplegia 31 | 1 test |
Hereditary spastic paraplegia 39 | 1 test |
Hereditary spastic paraplegia 4 | 1 test |
Hereditary spastic paraplegia 44 | 1 test |
Hereditary spastic paraplegia 45 | 1 test |
Hereditary spastic paraplegia 47 | 1 test |
Hereditary spastic paraplegia 49 | 1 test |
Hereditary spastic paraplegia 51 | 1 test |
Hereditary spastic paraplegia 55 | 1 test |
Hereditary spastic paraplegia 57 | 1 test |
Hereditary spastic paraplegia 6 | 1 test |
Hereditary spastic paraplegia 7 | 1 test |
Hereditary spastic paraplegia 72 | 1 test |
Hereditary spastic paraplegia 75 | 1 test |
Hereditary spastic paraplegia 8 | 1 test |
Hereditary spherocytosis type 4 | 1 test |
Hermansky-Pudlak syndrome 2 | 1 test |
Hermansky-Pudlak syndrome 9 | 1 test |
Heterotaxy, visceral, 1, X-linked | 1 test |
Heterotaxy, visceral, 5, autosomal | 1 test |
Heterotaxy, visceral, 7, autosomal | 1 test |
Heterotaxy, visceral, 8, autosomal | 1 test |
Heterotopia, periventricular, X-linked dominant | 2 tests |
Hidrotic ectodermal dysplasia syndrome | 2 tests |
High density lipoprotein cholesterol level quantitative trait locus 12 | 1 test |
High density lipoprotein cholesterol level quantitative trait locus 6 | 1 test |
Hirschsprung disease, susceptibility to, 1 | 2 tests |
Hirschsprung disease, susceptibility to, 3 | 1 test |
Hirschsprung disease, susceptibility to, 4 | 1 test |
Holoprosencephaly 2 | 1 test |
Holoprosencephaly 3 | 1 test |
Holoprosencephaly 4 | 1 test |
Holoprosencephaly 5 | 1 test |
Holoprosencephaly 7 | 1 test |
Holt-Oram syndrome | 1 test |
Huntington disease | 1 test |
Huntington disease-like 1 | 1 test |
Hurler syndrome | 1 test |
Hutchinson-Gilford syndrome | 1 test |
Hydatidiform mole, recurrent, 1 | 1 test |
Hydrocephalus, congenital, 3, with brain anomalies | 1 test |
Hydrolethalus syndrome 2 | 1 test |
Hyperalphalipoproteinemia 1 | 1 test |
Hypercalcemia, infantile, 2 | 1 test |
Hypercholesterolemia, autosomal dominant, 3 | 1 test |
Hypercholesterolemia, autosomal dominant, type B | 1 test |
Hypercholesterolemia, familial, 1 | 3 tests |
Hypercholesterolemia, familial, 4 | 1 test |
Hyperekplexia 1 | 1 test |
Hyperekplexia 3 | 1 test |
Hyperglycinuria | 3 tests |
Hyperimmunoglobulin D with periodic fever | 1 test |
Hyperkalemic periodic paralysis | 1 test |
Hyperlipidemia due to hepatic triglyceride lipase deficiency | 1 test |
Hyperlipidemia, familial combined, LPL related | 1 test |
Hyperlipoproteinemia, type 1D | 1 test |
Hyperlipoproteinemia, type I | 1 test |
Hypermanganesemia with dystonia 2 | 1 test |
Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 1 test |
Hyperostosis cranialis interna | 1 test |
Hyperparathyroidism, transient neonatal | 1 test |
Hyperphosphatasemia with bone disease | 1 test |
Hyperthyroxinemia, dystransthyretinemic | 1 test |
Hypertrichotic osteochondrodysplasia Cantu type | 1 test |
Hypertriglyceridemia 1 | 1 test |
Hypertriglyceridemia 2 | 1 test |
Hypertrophic cardiomyopathy 1 | 3 tests |
Hypertrophic cardiomyopathy 10 | 1 test |
Hypertrophic cardiomyopathy 11 | 1 test |
Hypertrophic cardiomyopathy 13 | 1 test |
Hypertrophic cardiomyopathy 14 | 1 test |
Hypertrophic cardiomyopathy 15 | 1 test |
Hypertrophic cardiomyopathy 16 | 1 test |
Hypertrophic cardiomyopathy 17 | 1 test |
Hypertrophic cardiomyopathy 18 | 1 test |
Hypertrophic cardiomyopathy 2 | 1 test |
Hypertrophic cardiomyopathy 20 | 1 test |
Hypertrophic cardiomyopathy 25 | 1 test |
Hypertrophic cardiomyopathy 3 | 1 test |
Hypertrophic cardiomyopathy 4 | 2 tests |
Hypertrophic cardiomyopathy 6 | 1 test |
Hypertrophic cardiomyopathy 7 | 1 test |
Hypertrophic cardiomyopathy 8 | 1 test |
Hypertrophic cardiomyopathy 9 | 1 test |
Hypertrophic osteoarthropathy, primary, autosomal dominant | 1 test |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 1 test |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 1 test |
Hypoalphalipoproteinemia, primary, 1 | 1 test |
Hypoalphalipoproteinemia, primary, 2 | 1 test |
Hypoalphalipoproteinemia, primary, 2, intermediate | 1 test |
Hypochondroplasia | 1 test |
Hypogonadotropic hypogonadism 26 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 6 with or without anosmia | 1 test |
Hypohidrotic X-linked ectodermal dysplasia | 1 test |
Hypokalemic periodic paralysis, type 1 | 1 test |
Hypokalemic periodic paralysis, type 2 | 1 test |
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 1 test |
Hypomyelinating leukodystrophy 10 | 1 test |
Hypomyelinating leukodystrophy 11 | 1 test |
Hypomyelinating leukodystrophy 12 | 1 test |
Hypomyelinating leukodystrophy 2 | 1 test |
Hypomyelinating leukodystrophy 4 | 1 test |
Hypomyelinating leukodystrophy 6 | 1 test |
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 test |
Hypomyelinating leukodystrophy 9 | 1 test |
Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 test |
Hypophosphatemic rickets, autosomal recessive, 2 | 1 test |
Hypopigmentation, organomegaly, and delayed myelination and development | 1 test |
Hypopigmentation-punctate palmoplantar keratoderma syndrome | 1 test |
Hypoplastic left heart syndrome 1 | 1 test |
Hypoplastic left heart syndrome 2 | 1 test |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 test |
Hypothyroidism, congenital, nongoitrous, 5 | 1 test |
Hypotrichosis 14 | 1 test |
Hypotrichosis 2 | 1 test |
Hypotrichosis-lymphedema-telangiectasia syndrome | 1 test |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 test |
IFAP syndrome 1, with or without BRESHECK syndrome | 1 test |
IFAP syndrome 2 | 1 test |
IMAGe syndrome | 1 test |
Ichthyosis bullosa of Siemens | 1 test |
Ichthyosis hystrix of Curth-Macklin | 1 test |
Ichthyosis prematurity syndrome | 1 test |
Ichthyosis vulgaris | 1 test |
Ichthyosis, annular epidermolytic 1 | 2 tests |
Ichthyosis, congenital, autosomal recessive 12 | 1 test |
Ichthyosis, congenital, autosomal recessive 13 | 1 test |
Ichthyosis, congenital, autosomal recessive 14 | 1 test |
Ichthyosis, hystrix-like, with hearing loss | 2 tests |
IgE responsiveness, atopic | 1 test |
Iminoglycinuria | 3 tests |
Immunodeficiency 33 | 1 test |
Immunodeficiency 36 | 1 test |
Immunodeficiency 95 | 1 test |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 test |
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 test |
Incontinentia pigmenti syndrome | 1 test |
Infantile GM1 gangliosidosis | 1 test |
Infantile cerebellar-retinal degeneration | 1 test |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 test |
Infantile convulsions and choreoathetosis | 1 test |
Infantile cortical hyperostosis | 1 test |
Infantile liver failure syndrome 2 | 1 test |
Infantile nephronophthisis | 1 test |
Infantile neuroaxonal dystrophy | 1 test |
Infantile-onset ascending hereditary spastic paralysis | 1 test |
Inflammatory bowel disease 1 | 1 test |
Inflammatory bowel disease 25 | 1 test |
Inflammatory bowel disease 28 | 1 test |
Inflammatory bowel disease 30 | 1 test |
Inflammatory bowel disease, immunodeficiency, and encephalopathy | 1 test |
Inherited Creutzfeldt-Jakob disease | 1 test |
Inherited obesity | 1 test |
Inosine triphosphatase deficiency | 1 test |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 test |
Intellectual developmental disorder 61 | 1 test |
Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 test |
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 test |
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 test |
Intellectual disability and myopathy syndrome | 1 test |
Intellectual disability, X-linked 1 | 1 test |
Intellectual disability, X-linked, syndromic, 35 | 1 test |
Intellectual disability, X-linked, with or without seizures, arx-related | 1 test |
Intellectual disability, autosomal dominant 15 | 1 test |
Intellectual disability, autosomal dominant 16 | 1 test |
Intellectual disability, autosomal dominant 20 | 1 test |
Intellectual disability, autosomal dominant 27 | 1 test |
Intellectual disability, autosomal dominant 39 | 1 test |
Intellectual disability, autosomal dominant 41 | 1 test |
Intellectual disability, autosomal dominant 5 | 1 test |
Intellectual disability, autosomal dominant 50 | 1 test |
Intellectual disability, autosomal dominant 58 | 1 test |
Intellectual disability, autosomal dominant 9 | 1 test |
Intellectual disability, autosomal recessive 12 | 1 test |
Intellectual disability, autosomal recessive 13 | 1 test |
Intellectual disability, autosomal recessive 57 | 1 test |
Intellectual disability, autosomal recessive 65 | 1 test |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 test |
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 test |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 test |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 2 tests |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 2 tests |
Irido-corneo-trabecular dysgenesis | 1 test |
Isolated congenital digital clubbing | 1 test |
Isolated focal cortical dysplasia type II | 4 tests |
Isolated focal non-epidermolytic palmoplantar keratoderma | 1 test |
Isolated microphthalmia 2 | 1 test |
Isolated microphthalmia 5 | 1 test |
Isolated optic nerve hypoplasia | 1 test |
Jackson-Weiss syndrome | 1 test |
Jawad syndrome | 1 test |
Jervell and Lange-Nielsen syndrome 1 | 2 tests |
Jervell and Lange-Nielsen syndrome 2 | 2 tests |
Joubert syndrome 1 | 1 test |
Joubert syndrome 10 | 1 test |
Joubert syndrome 13 | 1 test |
Joubert syndrome 14 | 1 test |
Joubert syndrome 16 | 1 test |
Joubert syndrome 18 | 1 test |
Joubert syndrome 2 | 1 test |
Joubert syndrome 20 | 1 test |
Joubert syndrome 22 | 1 test |
Joubert syndrome 23 | 1 test |
Joubert syndrome 24 | 1 test |
Joubert syndrome 26 | 1 test |
Joubert syndrome 27 | 1 test |
Joubert syndrome 28 | 1 test |
Joubert syndrome 32 | 1 test |
Joubert syndrome 33 | 1 test |
Joubert syndrome 35 | 1 test |
Joubert syndrome 37 | 1 test |
Joubert syndrome 38 | 1 test |
Joubert syndrome 39 | 1 test |
Joubert syndrome 40 | 1 test |
Joubert syndrome 5 | 1 test |
Joubert syndrome 6 | 1 test |
Joubert syndrome 7 | 1 test |
Joubert syndrome 8 | 1 test |
Joubert syndrome with renal defect | 1 test |
Junctional epidermolysis bullosa gravis of Herlitz | 1 test |
Junctional epidermolysis bullosa with pyloric atresia | 1 test |
Junctional epidermolysis bullosa, non-Herlitz type | 1 test |
Juvenile cataract-microcornea-renal glucosuria syndrome | 1 test |
Juvenile myelomonocytic leukemia | 4 tests |
Juvenile polyposis syndrome | 4 tests |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2 tests |
Juvenile primary lateral sclerosis | 1 test |
Juvenile retinoschisis | 1 test |
Kabuki syndrome 1 | 1 test |
Kabuki syndrome 2 | 1 test |
Kahrizi syndrome | 1 test |
Karyomegalic interstitial nephritis | 1 test |
Keratitis fugax hereditaria | 1 test |
Keratoconus 1 | 1 test |
Keratoconus 9 | 1 test |
Keratosis follicularis | 1 test |
Keratosis follicularis spinulosa decalvans, X-linked | 1 test |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | 1 test |
Keratosis palmoplantaris striata 2 | 2 tests |
Keratosis palmoplantaris striata 3 | 1 test |
Keutel syndrome | 1 test |
Kindler syndrome | 1 test |
Kleefstra syndrome 2 | 1 test |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 test |
Klippel-Feil syndrome 2, autosomal recessive | 1 test |
Knuckle pads, deafness AND leukonychia syndrome | 2 tests |
Koolen-de Vries syndrome | 1 test |
Krabbe disease due to saposin A deficiency | 1 test |
Kufor-Rakeb syndrome | 1 test |
Kuru, susceptibility to | 1 test |
Kury-Isidor syndrome | 1 test |
L-2-hydroxyglutaric aciduria | 1 test |
LADD syndrome 1 | 2 tests |
LAMB2-related infantile-onset nephrotic syndrome | 1 test |
LEOPARD syndrome 1 | 1 test |
LEOPARD syndrome 2 | 1 test |
LEOPARD syndrome 3 | 1 test |
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 | 1 test |
Lafora disease | 1 test |
Langer mesomelic dysplasia syndrome | 2 tests |
Large congenital melanocytic nevus | 2 tests |
Laryngo-onycho-cutaneous syndrome | 1 test |
Late-onset retinal degeneration | 1 test |
Lateral meningocele syndrome | 1 test |
Lathosterolosis | 1 test |
Lattice corneal dystrophy Type I | 1 test |
Lattice corneal dystrophy Type III | 1 test |
Laurence-Moon syndrome | 1 test |
Laurin-Sandrow syndrome | 1 test |
Leber congenital amaurosis 1 | 1 test |
Leber congenital amaurosis 10 | 1 test |
Leber congenital amaurosis 11 | 2 tests |
Leber congenital amaurosis 12 | 1 test |
Leber congenital amaurosis 13 | 1 test |
Leber congenital amaurosis 14 | 1 test |
Leber congenital amaurosis 15 | 1 test |
Leber congenital amaurosis 16 | 1 test |
Leber congenital amaurosis 19 | 1 test |
Leber congenital amaurosis 2 | 2 tests |
Leber congenital amaurosis 3 | 1 test |
Leber congenital amaurosis 4 | 1 test |
Leber congenital amaurosis 5 | 1 test |
Leber congenital amaurosis 6 | 1 test |
Leber congenital amaurosis 7 | 1 test |
Leber congenital amaurosis 8 | 1 test |
Leber congenital amaurosis 9 | 1 test |
Left ventricular noncompaction 10 | 2 tests |
Left ventricular noncompaction 7 | 1 test |
Left ventricular noncompaction 8 | 1 test |
Legius syndrome | 2 tests |
Lenz-Majewski hyperostosis syndrome | 1 test |
Leri-Weill dyschondrosteosis | 2 tests |
Lethal Kniest-like syndrome | 1 test |
Lethal acantholytic epidermolysis bullosa | 2 tests |
Lethal congenital glycogen storage disease of heart | 1 test |
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 1 test |
Lethal tight skin contracture syndrome | 1 test |
Leukocyte adhesion deficiency type II | 1 test |
Leukodystrophy and acquired microcephaly with or without dystonia; | 1 test |
Leukodystrophy, hypomyelinating, 14 | 1 test |
Leukodystrophy, hypomyelinating, 16 | 1 test |
Leukodystrophy, hypomyelinating, 21 | 1 test |
Leukoencephalopathy with vanishing white matter 1 | 1 test |
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 test |
Lewy body dementia | 2 tests |
Li-Fraumeni syndrome 1 | 2 tests |
Li-Fraumeni syndrome 2 | 2 tests |
Liang-Wang syndrome | 1 test |
Liberfarb syndrome | 1 test |
Liddle syndrome 1 | 1 test |
Liddle syndrome 2 | 1 test |
Liddle syndrome 3 | 1 test |
Limb-mammary syndrome | 1 test |
Linear nevus sebaceous syndrome | 3 tests |
Lipase deficiency, combined | 1 test |
Lipodystrophy, partial, acquired, susceptibility to | 1 test |
Lipoic acid synthetase deficiency | 1 test |
Lipoprotein glomerulopathy | 1 test |
Lipoyl transferase 1 deficiency | 1 test |
Lissencephaly 10 | 1 test |
Lissencephaly 4 | 1 test |
Lissencephaly 6 with microcephaly | 1 test |
Lissencephaly 7 with cerebellar hypoplasia | 1 test |
Lissencephaly 8 | 1 test |
Lissencephaly 9 with complex brainstem malformation | 1 test |
Lissencephaly due to LIS1 mutation | 2 tests |
Lissencephaly due to TUBA1A mutation | 1 test |
Lissencephaly type 1 due to doublecortin gene mutation | 2 tests |
Loeys-Dietz syndrome 1 | 1 test |
Loeys-Dietz syndrome 2 | 2 tests |
Loeys-Dietz syndrome 4 | 1 test |
Long QT syndrome 1 | 2 tests |
Long QT syndrome 10 | 1 test |
Long QT syndrome 11 | 1 test |
Long QT syndrome 12 | 1 test |
Long QT syndrome 13 | 1 test |
Long QT syndrome 14 | 1 test |
Long QT syndrome 15 | 1 test |
Long QT syndrome 2 | 2 tests |
Long QT syndrome 3 | 2 tests |
Long QT syndrome 5 | 2 tests |
Long QT syndrome 6 | 2 tests |
Long QT syndrome 9 | 1 test |
Long qt syndrome 8 | 1 test |
Lopes-Maciel-Rodan syndrome | 1 test |
Loricrin keratoderma | 1 test |
Lowe syndrome | 1 test |
Lower motor neuron syndrome with late-adult onset | 1 test |
Lowry-Wood syndrome | 1 test |
Lung cancer | 4 tests |
Lymphangiomyomatosis | 4 tests |
Lymphatic malformation 3 | 1 test |
Lymphatic malformation 7 | 1 test |
Lymphoma, non-Hodgkin, familial | 1 test |
Lymphoproliferative syndrome 1 | 1 test |
Lymphoproliferative syndrome 2 | 1 test |
Lynch syndrome 1 | 2 tests |
Lynch syndrome 4 | 2 tests |
Lynch syndrome 5 | 2 tests |
Lynch syndrome 8 | 2 tests |
Lysinuric protein intolerance | 1 test |
MASA syndrome | 1 test |
MASS syndrome | 2 tests |
MEDNIK syndrome | 1 test |
MEGF8-related Carpenter syndrome | 1 test |
MEND syndrome | 1 test |
MGAT2-congenital disorder of glycosylation | 1 test |
MORM syndrome | 1 test |
MPDU1-congenital disorder of glycosylation | 1 test |
MPI-congenital disorder of glycosylation | 1 test |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | 2 tests |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB | 2 tests |
MYH7-related skeletal myopathy | 1 test |
MYPN-related myopathy | 1 test |
Macrocephaly-autism syndrome | 2 tests |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
Macular corneal dystrophy | 1 test |
Macular degeneration, X-linked atrophic | 2 tests |
Macular degeneration, early-onset | 1 test |
Macular dystrophy with central cone involvement | 1 test |
Majeed syndrome | 1 test |
Malaria, susceptibility to | 1 test |
Malignant hyperthermia, susceptibility to, 5 | 1 test |
Malignant tumor of esophagus | 3 tests |
Malignant tumor of prostate | 8 tests |
Malignant tumor of urinary bladder | 4 tests |
Mandibular hypoplasia-deafness-progeroid syndrome | 2 tests |
Mandibuloacral dysplasia with type A lipodystrophy | 1 test |
Mandibuloacral dysplasia with type B lipodystrophy | 1 test |
Marbach-Rustad progeroid syndrome | 1 test |
Marfan syndrome | 2 tests |
Marinesco-Sjögren syndrome | 1 test |
Martsolf syndrome 1 | 1 test |
Martsolf syndrome 2 | 1 test |
Mast syndrome | 1 test |
Maturity-onset diabetes of the young type 6 | 1 test |
McCune-Albright syndrome | 1 test |
McKusick-Kaufman syndrome | 1 test |
Meacham syndrome | 1 test |
Meckel syndrome 13 | 1 test |
Meckel syndrome, type 1 | 1 test |
Meckel syndrome, type 11 | 1 test |
Meckel syndrome, type 2 | 1 test |
Meckel syndrome, type 3 | 1 test |
Meckel syndrome, type 4 | 1 test |
Meckel syndrome, type 5 | 1 test |
Meckel syndrome, type 8 | 1 test |
Meckel syndrome, type 9 | 1 test |
Medulloblastoma | 4 tests |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 1 test |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 1 test |
Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 test |
Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 test |
Meier-Gorlin syndrome 1 | 1 test |
Meier-Gorlin syndrome 2 | 1 test |
Meier-Gorlin syndrome 3 | 1 test |
Meier-Gorlin syndrome 5 | 1 test |
Meier-Gorlin syndrome 6 | 1 test |
Meier-Gorlin syndrome 8 | 1 test |
Melanoma and neural system tumor syndrome | 1 test |
Melanoma, cutaneous malignant, susceptibility to, 1 | 3 tests |
Melanoma, cutaneous malignant, susceptibility to, 2 | 1 test |
Melanoma, cutaneous malignant, susceptibility to, 3 | 1 test |
Melanoma-pancreatic cancer syndrome | 1 test |
Melnick-Needles syndrome | 2 tests |
Melorheostosis | 1 test |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 1 test |
Menstrual cycle-dependent periodic fever | 1 test |
Meretoja syndrome | 1 test |
Mesothelioma, malignant | 1 test |
Metabolic syndrome X | 1 test |
Metachondromatosis | 1 test |
Metaphyseal anadysplasia 2 | 1 test |
Metaphyseal chondrodysplasia, Jansen type | 1 test |
Metaphyseal chondrodysplasia, McKusick type | 1 test |
Metaphyseal chondrodysplasia, Spahr type | 1 test |
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 1 test |
Metaphyseal dysplasia without hypotrichosis | 1 test |
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 1 test |
Metatropic dysplasia | 1 test |
Mevalonic aciduria | 1 test |
Microcephalic osteodysplastic primordial dwarfism type II | 1 test |
Microcephalic primordial dwarfism due to RTTN deficiency | 1 test |
Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 test |
Microcephalic primordial dwarfism, Alazami type | 1 test |
Microcephaly 1, primary, autosomal recessive | 1 test |
Microcephaly 11, primary, autosomal recessive | 1 test |
Microcephaly 12, primary, autosomal recessive | 1 test |
Microcephaly 14, primary, autosomal recessive | 1 test |
Microcephaly 15, primary, autosomal recessive | 1 test |
Microcephaly 18, primary, autosomal dominant | 1 test |
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 test |
Microcephaly 20, primary, autosomal recessive | 1 test |
Microcephaly 21, primary, autosomal recessive | 1 test |
Microcephaly 22, primary, autosomal recessive | 1 test |
Microcephaly 23, primary, autosomal recessive | 1 test |
Microcephaly 24, primary, autosomal recessive | 1 test |
Microcephaly 25, primary, autosomal recessive | 1 test |
Microcephaly 26, primary, autosomal dominant | 1 test |
Microcephaly 27, primary, autosomal dominant | 1 test |
Microcephaly 3, primary, autosomal recessive | 1 test |
Microcephaly 4, primary, autosomal recessive | 1 test |
Microcephaly 5, primary, autosomal recessive | 1 test |
Microcephaly 6, primary, autosomal recessive | 1 test |
Microcephaly 7, primary, autosomal recessive | 1 test |
Microcephaly 8, primary, autosomal recessive | 1 test |
Microcephaly 9, primary, autosomal recessive | 1 test |
Microcephaly and chorioretinopathy 1 | 1 test |
Microcephaly and chorioretinopathy 2 | 1 test |
Microcephaly and chorioretinopathy 3 | 1 test |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 test |
Microcephaly, epilepsy, and diabetes syndrome 1 | 1 test |
Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 1 test |
Microcephaly, normal intelligence and immunodeficiency | 1 test |
Microcephaly, seizures, and developmental delay | 1 test |
Microcephaly, short stature, and impaired glucose metabolism 1 | 1 test |
Microcephaly, short stature, and impaired glucose metabolism 2 | 1 test |
Microcephaly-capillary malformation syndrome | 1 test |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 test |
Microphthalmia with limb anomalies | 1 test |
Microphthalmia, isolated, with coloboma 10 | 1 test |
Microphthalmia, isolated, with coloboma 3 | 1 test |
Microphthalmia, isolated, with coloboma 5 | 1 test |
Microphthalmia, syndromic 1 | 1 test |
Microvascular complications of diabetes, susceptibility to, 4 | 1 test |
Microvascular complications of diabetes, susceptibility to, 5 | 1 test |
Migraine, familial hemiplegic, 1 | 1 test |
Migraine, familial hemiplegic, 2 | 1 test |
Migraine, familial hemiplegic, 3 | 1 test |
Mismatch repair cancer syndrome 1 | 2 tests |
Mismatch repair cancer syndrome 2 | 2 tests |
Mismatch repair cancer syndrome 3 | 2 tests |
Mismatch repair cancer syndrome 4 | 2 tests |
Mitochondrial DNA deletion syndrome with progressive myopathy | 1 test |
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 1 test |
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 1 test |
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 2 tests |
Mitochondrial DNA depletion syndrome 4b | 1 test |
Mitochondrial complex 2 deficiency, nuclear type 3 | 1 test |
Mitochondrial complex 2 deficiency, nuclear type 4 | 1 test |
Mitochondrial complex II deficiency, nuclear type 1 | 2 tests |
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 1 test |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 test |
Miyoshi muscular dystrophy 3 | 1 test |
Mowat-Wilson syndrome | 2 tests |
Moyamoya disease 5 | 1 test |
Mucopolysaccharidosis type 6 | 1 test |
Mucopolysaccharidosis, MPS-I-H/S | 1 test |
Mucopolysaccharidosis, MPS-I-S | 1 test |
Mucopolysaccharidosis, MPS-II | 1 test |
Mucopolysaccharidosis, MPS-III-A | 1 test |
Mucopolysaccharidosis, MPS-III-B | 1 test |
Mucopolysaccharidosis, MPS-III-C | 1 test |
Mucopolysaccharidosis, MPS-IV-B | 1 test |
Mucopolysaccharidosis-plus syndrome | 1 test |
Muenke syndrome | 1 test |
Muir-Torré syndrome | 4 tests |
Mulibrey nanism syndrome | 1 test |
Mullerian aplasia and hyperandrogenism | 1 test |
Multiple benign circumferential skin creases on limbs 1 | 1 test |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 test |
Multiple cutaneous and mucosal venous malformations | 1 test |
Multiple endocrine neoplasia type 4 | 1 test |
Multiple endocrine neoplasia, type 1 | 2 tests |
Multiple epiphyseal dysplasia type 4 | 1 test |
Multiple epiphyseal dysplasia type 5 | 1 test |
Multiple epiphyseal dysplasia, Al-Gazali type | 1 test |
Multiple mitochondrial dysfunctions syndrome 1 | 1 test |
Multiple sclerosis, susceptibility to, 5 | 1 test |
Multiple self-healing squamous epithelioma | 1 test |
Multiple sulfatase deficiency | 1 test |
Multisystemic smooth muscle dysfunction syndrome | 1 test |
Mungan syndrome | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 2 tests |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2 tests |
Mutilating keratoderma | 2 tests |
Myasthenic syndrome, congenital, 25, presynaptic | 1 test |
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 1 test |
Myhre syndrome | 2 tests |
Myoclonic dystonia 11 | 2 tests |
Myoclonic-astatic epilepsy | 1 test |
Myoclonus, familial, 2 | 1 test |
Myoclonus, intractable, neonatal | 1 test |
Myofibrillar myopathy 11 | 1 test |
Myofibrillar myopathy 4 | 1 test |
Myofibrillar myopathy 6 | 1 test |
Myofibromatosis, infantile, 2 | 1 test |
Myopathy, distal, with rimmed vacuoles | 1 test |
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 1 test |
Myopathy, myofibrillar, 9, with early respiratory failure | 1 test |
Myopathy, myosin storage, autosomal recessive | 1 test |
Myopathy, tubular aggregate, 2 | 1 test |
Myopia 21, autosomal dominant | 1 test |
Myopia 22, autosomal dominant | 1 test |
Myopia 23, autosomal recessive | 1 test |
Myopia 24, autosomal dominant | 1 test |
Myopia 25, autosomal dominant | 1 test |
Myopia 28, autosomal recessive | 1 test |
Myopia 6 | 1 test |
Myopia, high, with cataract and vitreoretinal degeneration | 1 test |
Myosin storage myopathy | 1 test |
NDE1-related microhydranencephaly | 1 test |
NPHP3-related Meckel-like syndrome | 1 test |
Naegeli-Franceschetti-Jadassohn syndrome | 2 tests |
Nager syndrome | 1 test |
Nail-patella syndrome | 1 test |
Nail-patella-like renal disease | 1 test |
Nance-Horan syndrome | 1 test |
Nanophthalmos 2 | 1 test |
Nasopharyngeal carcinoma | 2 tests |
Naxos disease | 2 tests |
Neonatal ichthyosis-sclerosing cholangitis syndrome | 1 test |
Neonatal pseudo-hydrocephalic progeroid syndrome | 1 test |
Neoplasm of ovary | 6 tests |
Nephrogenic syndrome of inappropriate antidiuresis | 1 test |
Nephronophthisis 1 | 1 test |
Nephronophthisis 11 | 1 test |
Nephronophthisis 12 | 1 test |
Nephronophthisis 13 | 1 test |
Nephronophthisis 14 | 1 test |
Nephronophthisis 16 | 1 test |
Nephronophthisis 3 | 1 test |
Nephronophthisis 4 | 1 test |
Nephrotic syndrome 14 | 1 test |
Nephrotic syndrome 15 | 1 test |
Nephrotic syndrome 16 | 1 test |
Nephrotic syndrome, type 11 | 1 test |
Nephrotic syndrome, type 12 | 1 test |
Nephrotic syndrome, type 13 | 1 test |
Nephrotic syndrome, type 17 | 1 test |
Nephrotic syndrome, type 18 | 1 test |
Nephrotic syndrome, type 19 | 1 test |
Nephrotic syndrome, type 2 | 1 test |
Nephrotic syndrome, type 20 | 1 test |
Nephrotic syndrome, type 3 | 1 test |
Nephrotic syndrome, type 4 | 1 test |
Nephrotic syndrome, type 6 | 1 test |
Nephrotic syndrome, type 8 | 1 test |
Netherton syndrome | 1 test |
Neu-Laxova syndrome 1 | 1 test |
Neu-Laxova syndrome 2 | 1 test |
Neuroblastoma, susceptibility to, 1 | 1 test |
Neurocutaneous melanocytosis | 1 test |
Neurodegeneration with ataxia and late-onset optic atrophy | 2 tests |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 test |
Neurodegeneration with brain iron accumulation 2B | 1 test |
Neurodegeneration with brain iron accumulation 5 | 1 test |
Neurodevelopmental disorder with epilepsy and hemochromatosis | 1 test |
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 test |
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 test |
Neurodevelopmental disorder with visual defects and brain anomalies | 1 test |
Neurofibromatosis, familial spinal | 2 tests |
Neurofibromatosis, type 1 | 2 tests |
Neurofibromatosis, type 2 | 2 tests |
Neurofibromatosis-Noonan syndrome | 2 tests |
Neurogenic scapuloperoneal syndrome, Kaeser type | 1 test |
Neurohypophyseal diabetes insipidus | 1 test |
Neuronal ceroid lipofuscinosis 1 | 1 test |
Neuronal ceroid lipofuscinosis 2 | 1 test |
Neuronal ceroid lipofuscinosis 7 | 1 test |
Neuronal ceroid lipofuscinosis 8 | 1 test |
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 test |
Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 test |
Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 test |
Neuronopathy, distal hereditary motor, type 2A | 1 test |
Neuronopathy, distal hereditary motor, type 2B | 1 test |
Neuronopathy, distal hereditary motor, type 2C | 1 test |
Neuronopathy, distal hereditary motor, type 5B | 1 test |
Neuropathy, congenital hypomyelinating, 2 | 1 test |
Neuropathy, hereditary motor and sensory, type 6A | 1 test |
Neuropathy, hereditary motor and sensory, type 6B | 1 test |
Neuropathy, hereditary sensory and autonomic, type 1A | 1 test |
Neuropathy, hereditary sensory and autonomic, type 1C | 1 test |
Neuropathy, hereditary sensory and autonomic, type 2A | 1 test |
Neuropathy, hereditary sensory and autonomic, type 2B | 1 test |
Neuropathy, hereditary sensory, type 2C | 1 test |
Neutral 1 amino acid transport defect | 1 test |
Neutropenia, severe congenital, 1, autosomal dominant | 1 test |
Newfoundland cone-rod dystrophy | 1 test |
Niemann-Pick disease, type A | 1 test |
Niemann-Pick disease, type B | 1 test |
Niemann-Pick disease, type C1 | 1 test |
Niemann-Pick disease, type C2 | 1 test |
Night blindness, congenital stationary, type1i | 1 test |
Nijmegen breakage syndrome-like disorder | 1 test |
Non-ketotic hyperglycinemia | 1 test |
Nonpapillary renal cell carcinoma | 5 tests |
Nonsyndromic congenital nail disorder 8 | 2 tests |
Noonan syndrome 1 | 1 test |
Noonan syndrome 10 | 1 test |
Noonan syndrome 11 | 1 test |
Noonan syndrome 12 | 1 test |
Noonan syndrome 13 | 1 test |
Noonan syndrome 2 | 1 test |
Noonan syndrome 3 | 1 test |
Noonan syndrome 4 | 1 test |
Noonan syndrome 5 | 1 test |
Noonan syndrome 6 | 1 test |
Noonan syndrome 7 | 1 test |
Noonan syndrome 8 | 1 test |
Noonan syndrome 9 | 1 test |
Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
Noonan syndrome-like disorder with loose anagen hair 2 | 1 test |
Norman-Roberts syndrome | 1 test |
Norum disease | 1 test |
Nystagmus 1, congenital, X-linked | 1 test |
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | 1 test |
Obesity, hyperphagia, and developmental delay | 1 test |
Occult macular dystrophy | 1 test |
Ocular albinism, type II | 1 test |
Oculodentodigital dysplasia | 1 test |
Oculodentodigital dysplasia, autosomal recessive | 1 test |
Oculootoradial syndrome | 1 test |
Odonto-onycho-dermal dysplasia | 1 test |
Odontochondrodysplasia 1 | 1 test |
Ogden syndrome | 1 test |
Oguchi disease-1 | 1 test |
Olmsted syndrome 1 | 1 test |
Olmsted syndrome 2 | 1 test |
Olmsted syndrome, X-linked | 1 test |
Opsismodysplasia | 1 test |
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 1 test |
Optic atrophy 11 | 1 test |
Optic atrophy 13 with retinal and foveal abnormalities | 1 test |
Optic atrophy 3 | 1 test |
Optic atrophy 9 | 1 test |
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 2 tests |
Ornithine aminotransferase deficiency | 1 test |
Orofacial cleft 6, susceptibility to | 1 test |
Orofacial cleft 8 | 1 test |
Orofacial-digital syndrome IV | 1 test |
Orofaciodigital syndrome 16 | 1 test |
Orofaciodigital syndrome 17 | 1 test |
Orofaciodigital syndrome I | 1 test |
Orofaciodigital syndrome XV | 1 test |
Orofaciodigital syndrome type 14 | 1 test |
Osteoarthritis susceptibility 2 | 1 test |
Osteodysplastic primordial dwarfism, type 1 | 1 test |
Osteofibrous dysplasia | 1 test |
Osteogenesis imperfecta type 10 | 1 test |
Osteogenesis imperfecta type 12 | 1 test |
Osteogenesis imperfecta type 14 | 1 test |
Osteogenesis imperfecta type 15 | 1 test |
Osteogenesis imperfecta type 17 | 1 test |
Osteogenesis imperfecta type 5 | 1 test |
Osteogenesis imperfecta type 6 | 1 test |
Osteogenesis imperfecta type 8 | 1 test |
Osteogenesis imperfecta type 9 | 1 test |
Osteogenesis imperfecta type I | 1 test |
Osteogenesis imperfecta type III | 3 tests |
Osteogenesis imperfecta with normal sclerae, dominant form | 3 tests |
Osteogenesis imperfecta, perinatal lethal | 3 tests |
Osteogenesis imperfecta, type 18 | 1 test |
Osteogenesis imperfecta, type 19 | 1 test |
Osteogenesis imperfecta, type 20 | 1 test |
Osteogenesis imperfecta, type 21 | 1 test |
Osteopetrosis, autosomal dominant 3 | 1 test |
Osteoporosis | 4 tests |
Osteoporosis with pseudoglioma | 1 test |
Osteosclerotic metaphyseal dysplasia | 1 test |
Otitis media, susceptibility to | 1 test |
Oto-palato-digital syndrome, type I | 2 tests |
Oto-palato-digital syndrome, type II | 2 tests |
Ovarian dysgenesis 6 | 1 test |
PCWH syndrome | 1 test |
PEHO syndrome | 1 test |
PERCHING syndrome | 1 test |
PGM1-congenital disorder of glycosylation | 1 test |
PHARC syndrome | 1 test |
PHGDH deficiency | 1 test |
PMM2-congenital disorder of glycosylation | 1 test |
PSAT deficiency | 1 test |
PYCR1-related de Barsy syndrome | 1 test |
Pachyonychia congenita 1 | 1 test |
Pachyonychia congenita 2 | 1 test |
Pachyonychia congenita 3 | 1 test |
Pachyonychia congenita 4 | 1 test |
Paget disease of bone 2, early-onset | 1 test |
Paget disease of bone 3 | 1 test |
Palmoplantar keratoderma i, striate, focal, or diffuse | 1 test |
Palmoplantar keratoderma, Bothnian type | 1 test |
Palmoplantar keratoderma, Nagashima type | 1 test |
Palmoplantar keratoderma, nonepidermolytic, focal 1 | 1 test |
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | 1 test |
Palmoplantar keratoderma, punctate type 1A | 1 test |
Palmoplantar keratoderma-deafness syndrome | 2 tests |
Palmoplantar keratoderma-esophageal carcinoma syndrome | 1 test |
Pancreatic cancer, susceptibility to, 2 | 2 tests |
Pancreatic cancer, susceptibility to, 3 | 2 tests |
Pancreatic cancer, susceptibility to, 4 | 2 tests |
Papillary renal cell carcinoma type 1 | 1 test |
Papillon-Lefèvre syndrome | 1 test |
Paragangliomas 1 | 1 test |
Paragangliomas 3 | 1 test |
Paragangliomas 4 | 1 test |
Paragangliomas 5 | 2 tests |
Paramyotonia congenita of Von Eulenburg | 1 test |
Parastremmatic dwarfism | 1 test |
Parietal foramina 1 | 1 test |
Parietal foramina 2 | 1 test |
Parietal foramina with cleidocranial dysplasia | 1 test |
Parkinson disease 11, autosomal dominant, susceptibility to | 1 test |
Parkinson disease 13, autosomal dominant, susceptibility to | 1 test |
Parkinson disease 17 | 1 test |
Parkinson disease 24, autosomal dominant, susceptibility to | 1 test |
Parkinson disease 5, autosomal dominant, susceptibility to | 2 tests |
Parkinson disease, late-onset | 1 test |
Paroxysmal extreme pain disorder | 1 test |
Paroxysmal nocturnal hemoglobinuria 1 | 1 test |
Paroxysmal nonkinesigenic dyskinesia 1 | 1 test |
Partington syndrome | 1 test |
Patent ductus arteriosus 3 | 1 test |
Patterned macular dystrophy 1 | 2 tests |
Patterned macular dystrophy 2 | 1 test |
Peeling skin syndrome 1 | 1 test |
Peeling skin syndrome 4 | 1 test |
Peeling skin syndrome 5 | 1 test |
Peeling skin syndrome type A | 1 test |
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | 1 test |
Pelger-Huët anomaly | 1 test |
Pelizaeus-Merzbacher disease | 1 test |
Pelviscapular dysplasia | 1 test |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 test |
Periodontitis, aggressive 1 | 1 test |
Periventricular heterotopia with microcephaly, autosomal recessive | 1 test |
Periventricular nodular heterotopia 7 | 1 test |
Peroxisome biogenesis disorder 10A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 10B | 1 test |
Peroxisome biogenesis disorder 11A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 11B | 1 test |
Peroxisome biogenesis disorder 12A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 13A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 14B | 1 test |
Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 1B | 1 test |
Peroxisome biogenesis disorder 2A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 2B | 1 test |
Peroxisome biogenesis disorder 3A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 4A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 4B | 1 test |
Peroxisome biogenesis disorder 5A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 5B | 1 test |
Peroxisome biogenesis disorder 6A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 6B | 1 test |
Peroxisome biogenesis disorder 7A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 7B | 1 test |
Peroxisome biogenesis disorder 8A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 8B | 1 test |
Peroxisome biogenesis disorder 9B | 1 test |
Peroxisome biogenesis disorder type 3B | 1 test |
Perrault syndrome 1 | 1 test |
Peutz-Jeghers syndrome | 2 tests |
Pfeiffer syndrome | 1 test |
Phelan-McDermid syndrome | 1 test |
Pheochromocytoma | 10 tests |
Phosphoribosylpyrophosphate synthetase superactivity | 1 test |
Phytanic acid storage disease | 1 test |
Pick disease | 3 tests |
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 test |
Pierpont syndrome | 1 test |
Pierson syndrome | 1 test |
Pigmentary pallidal degeneration | 1 test |
Pigmentary retinal dystrophy | 6 tests |
Pigmented nodular adrenocortical disease, primary, 1 | 2 tests |
Pigmented paravenous retinochoroidal atrophy | 1 test |
Pilomatrixoma | 1 test |
Pitt-Hopkins syndrome | 2 tests |
Pitt-Hopkins-like syndrome 2 | 1 test |
Pituitary adenoma 3, multiple types | 1 test |
Pituitary adenoma 5, multiple types | 1 test |
Pituitary hormone deficiency, combined, 6 | 1 test |
Pityriasis rubra pilaris | 1 test |
Plasma triglyceride level quantitative trait locus | 1 test |
Pleomorphic adenoma of salivary gland | 1 test |
Pleuropulmonary blastoma | 1 test |
Polycystic kidney disease 2 | 1 test |
Polycystic kidney disease 4 | 1 test |
Polycystic kidney disease, adult type | 1 test |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 1 test |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 1 test |
Polycystic liver disease 3 with or without kidney cysts | 1 test |
Polycystic liver disease 4 with or without kidney cysts | 1 test |
Polydactyly of a triphalangeal thumb | 1 test |
Polydactyly, postaxial, type a10 | 1 test |
Polydactyly, postaxial, type a7 | 1 test |
Polyglucosan body myopathy type 1 | 1 test |
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 2 tests |
Polyposis syndrome, hereditary mixed, 2 | 2 tests |
Pontocerebellar hypoplasia type 1A | 1 test |
Pontocerebellar hypoplasia type 1B | 1 test |
Pontocerebellar hypoplasia type 2A | 1 test |
Pontocerebellar hypoplasia type 2B | 1 test |
Pontocerebellar hypoplasia type 2C | 1 test |
Pontocerebellar hypoplasia type 2D | 1 test |
Pontocerebellar hypoplasia type 2E | 1 test |
Pontocerebellar hypoplasia type 3 | 1 test |
Pontocerebellar hypoplasia type 4 | 1 test |
Pontocerebellar hypoplasia type 5 | 1 test |
Pontocerebellar hypoplasia type 6 | 1 test |
Pontocerebellar hypoplasia type 7 | 1 test |
Pontocerebellar hypoplasia type 8 | 1 test |
Pontocerebellar hypoplasia, type 11 | 1 test |
Pontocerebellar hypoplasia, type 13 | 1 test |
Pontocerebellar hypoplasia, type 1E | 1 test |
Pontocerebellar hypoplasia, type 2F | 1 test |
Porokeratosis 1, Mibelli type | 1 test |
Porokeratosis 3, disseminated superficial actinic type | 1 test |
Porokeratosis 7, multiple types | 1 test |
Porokeratosis 9, multiple types | 1 test |
Posterior polymorphous corneal dystrophy 1 | 1 test |
Posterior polymorphous corneal dystrophy 2 | 1 test |
Posterior polymorphous corneal dystrophy 3 | 1 test |
Potassium-aggravated myotonia | 1 test |
Prader-Willi syndrome | 1 test |
Premature ovarian failure 17 | 1 test |
Premature ovarian failure 7 | 1 test |
Preterm premature rupture of membranes | 1 test |
Pretibial dystrophic epidermolysis bullosa | 2 tests |
Primary coenzyme Q10 deficiency 8 | 1 test |
Primary erythromelalgia | 1 test |
Primary failure of tooth eruption | 1 test |
Primary open angle glaucoma | 1 test |
Progeroid and marfanoid aspect-lipodystrophy syndrome | 2 tests |
Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | 1 test |
Progressive familial heart block, type 1A | 2 tests |
Progressive myoclonic epilepsy type 3 | 1 test |
Progressive myoclonic epilepsy type 6 | 1 test |
Progressive myoclonic epilepsy type 7 | 1 test |
Progressive myoclonic epilepsy type 9 | 1 test |
Progressive osseous heteroplasia | 1 test |
Progressive retinal dystrophy due to retinol transport defect | 1 test |
Progressive sclerosing poliodystrophy | 1 test |
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | 1 test |
Progressive supranuclear palsy-parkinsonism syndrome | 1 test |
Prostate cancer, hereditary, 9 | 1 test |
Proteasome-associated autoinflammatory syndrome 1 | 1 test |
Proteasome-associated autoinflammatory syndrome 2 | 1 test |
Proteasome-associated autoinflammatory syndrome 3 | 2 tests |
Proteus syndrome | 1 test |
Proximal symphalangism 1A | 1 test |
Pseudo-TORCH syndrome 2 | 1 test |
Pseudohyperaldosteronism type 2 | 1 test |
Pseudohypoaldosteronism type 2B | 1 test |
Pseudohypoaldosteronism type 2C | 1 test |
Pseudohypoaldosteronism type 2D | 1 test |
Pseudohypoparathyroidism type 1B | 1 test |
Pseudohypoparathyroidism type 1C | 1 test |
Pseudohypoparathyroidism type I A | 1 test |
Pseudopseudohypoparathyroidism | 1 test |
Psoriasis 15, pustular, susceptibility to | 1 test |
Psoriasis 2 | 1 test |
Pulmonary hypertension, primary, 1 | 1 test |
Pulmonary venoocclusive disease 1 | 1 test |
Pyle metaphyseal dysplasia | 1 test |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 test |
Pyridoxal phosphate-responsive seizures | 1 test |
Pyridoxine-dependent epilepsy | 1 test |
RAB23-related Carpenter syndrome | 1 test |
RAPH BLOOD GROUP SYSTEM | 1 test |
RCBTB1-related retinopathy | 1 test |
RHYNS syndrome | 1 test |
Radial aplasia-thrombocytopenia syndrome | 1 test |
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 1 test |
Radioulnar synostosis, nonsyndromic, susceptibility to | 1 test |
Rapadilino syndrome | 1 test |
Rapp-Hodgkin ectodermal dysplasia syndrome | 1 test |
Recessive dystrophic epidermolysis bullosa | 2 tests |
Regressive spondylometaphyseal dysplasia | 1 test |
Reis-Bucklers' corneal dystrophy | 1 test |
Renal carnitine transport defect | 1 test |
Renal coloboma syndrome | 1 test |
Renal cysts and diabetes syndrome | 1 test |
Renal hypodysplasia/aplasia 1 | 1 test |
Renal tubular acidosis, distal, 4, with hemolytic anemia | 1 test |
Renal tubular dysgenesis of genetic origin | 1 test |
Renal-hepatic-pancreatic dysplasia 1 | 1 test |
Renpenning syndrome | 1 test |
Respiratory papillomatosis, juvenile recurrent, congenital | 1 test |
Restrictive dermopathy 2 | 1 test |
Retinal cone dystrophy 3A | 1 test |
Retinal dystrophy and obesity | 1 test |
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | 1 test |
Retinal macular dystrophy type 2 | 1 test |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 1 test |
Retinitis pigmentosa 1 | 2 tests |
Retinitis pigmentosa 10 | 2 tests |
Retinitis pigmentosa 11 | 2 tests |
Retinitis pigmentosa 12 | 1 test |
Retinitis pigmentosa 13 | 1 test |
Retinitis pigmentosa 14 | 1 test |
Retinitis pigmentosa 18 | 1 test |
Retinitis pigmentosa 19 | 2 tests |
Retinitis pigmentosa 2 | 2 tests |
Retinitis pigmentosa 20 | 2 tests |
Retinitis pigmentosa 23 | 1 test |
Retinitis pigmentosa 25 | 2 tests |
Retinitis pigmentosa 26 | 1 test |
Retinitis pigmentosa 27 | 1 test |
Retinitis pigmentosa 28 | 1 test |
Retinitis pigmentosa 3 | 2 tests |
Retinitis pigmentosa 31 | 1 test |
Retinitis pigmentosa 33 | 1 test |
Retinitis pigmentosa 35 | 1 test |
Retinitis pigmentosa 36 | 1 test |
Retinitis pigmentosa 37 | 1 test |
Retinitis pigmentosa 38 | 1 test |
Retinitis pigmentosa 39 | 2 tests |
Retinitis pigmentosa 4 | 2 tests |
Retinitis pigmentosa 40 | 1 test |
Retinitis pigmentosa 41 | 1 test |
Retinitis pigmentosa 42 | 1 test |
Retinitis pigmentosa 43 | 1 test |
Retinitis pigmentosa 44 | 1 test |
Retinitis pigmentosa 45 | 1 test |
Retinitis pigmentosa 46 | 1 test |
Retinitis pigmentosa 47 | 1 test |
Retinitis pigmentosa 48 | 1 test |
Retinitis pigmentosa 49 | 1 test |
Retinitis pigmentosa 50 | 2 tests |
Retinitis pigmentosa 51 | 1 test |
Retinitis pigmentosa 54 | 1 test |
Retinitis pigmentosa 55 | 1 test |
Retinitis pigmentosa 56 | 1 test |
Retinitis pigmentosa 57 | 1 test |
Retinitis pigmentosa 58 | 1 test |
Retinitis pigmentosa 59 | 1 test |
Retinitis pigmentosa 60 | 1 test |
Retinitis pigmentosa 61 | 1 test |
Retinitis pigmentosa 62 | 1 test |
Retinitis pigmentosa 66 | 1 test |
Retinitis pigmentosa 67 | 1 test |
Retinitis pigmentosa 68 | 1 test |
Retinitis pigmentosa 69 | 1 test |
Retinitis pigmentosa 7 | 3 tests |
Retinitis pigmentosa 70 | 1 test |
Retinitis pigmentosa 71 | 1 test |
Retinitis pigmentosa 72 | 1 test |
Retinitis pigmentosa 73 | 1 test |
Retinitis pigmentosa 74 | 1 test |
Retinitis pigmentosa 75 | 1 test |
Retinitis pigmentosa 76 | 2 tests |
Retinitis pigmentosa 77 | 1 test |
Retinitis pigmentosa 78 | 1 test |
Retinitis pigmentosa 79 | 1 test |
Retinitis pigmentosa 80 | 1 test |
Retinitis pigmentosa 81 | 1 test |
Retinitis pigmentosa 83 | 1 test |
Retinitis pigmentosa 86 | 1 test |
Retinitis pigmentosa 87 with choroidal involvement | 2 tests |
Retinitis pigmentosa 88 | 1 test |
Retinitis pigmentosa 89 | 1 test |
Retinitis pigmentosa 9 | 1 test |
Retinitis pigmentosa 90 | 1 test |
Retinitis pigmentosa and erythrocytic microcytosis | 1 test |
Retinitis pigmentosa with or without situs inversus | 1 test |
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 2 tests |
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | 1 test |
Retinoblastoma | 1 test |
Rett syndrome | 1 test |
Rett syndrome, congenital variant | 2 tests |
Reynolds syndrome | 1 test |
Rhabdoid tumor predisposition syndrome 1 | 1 test |
Rhabdoid tumor predisposition syndrome 2 | 1 test |
Rhabdomyosarcoma, embryonal, 2 | 1 test |
Rheumatoid arthritis | 1 test |
Rhizomelic chondrodysplasia punctata type 1 | 1 test |
Rhizomelic chondrodysplasia punctata type 2 | 1 test |
Rhizomelic chondrodysplasia punctata type 5 | 1 test |
Rienhoff syndrome | 2 tests |
Rippling muscle disease 2 | 1 test |
Ritscher-Schinzel syndrome 1 | 1 test |
Robinow-Sorauf syndrome | 1 test |
Roifman syndrome | 1 test |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 test |
Rothmund-Thomson syndrome type 2 | 1 test |
Roussy-Lévy syndrome | 3 tests |
SERKAL syndrome | 1 test |
SHORT syndrome | 1 test |
SHOX-related short stature | 2 tests |
SLC35A2-congenital disorder of glycosylation | 1 test |
SRD5A3-congenital disorder of glycosylation | 1 test |
STING-associated vasculopathy with onset in infancy | 1 test |
SUDDEN INFANT DEATH SYNDROME | 2 tests |
Saethre-Chotzen syndrome | 2 tests |
Saldino-Mainzer syndrome | 1 test |
Salla disease | 1 test |
Sarcotubular myopathy | 1 test |
Scapuloperoneal spinal muscular atrophy | 1 test |
SchC6pf-Schulz-Passarge syndrome | 1 test |
Schaaf-Yang syndrome | 1 test |
Schimke immuno-osseous dysplasia | 1 test |
Schinzel phocomelia syndrome | 1 test |
Schizencephaly | 2 tests |
Schizophrenia 15 | 1 test |
Schizophrenia 18 | 1 test |
Schneckenbecken dysplasia | 1 test |
Schnyder crystalline corneal dystrophy | 1 test |
Schwannomatosis 1 | 3 tests |
Schwannomatosis 2 | 1 test |
Schwartz-Jampel syndrome type 1 | 1 test |
Sclerosteosis 1 | 1 test |
Sclerosteosis 2 | 1 test |
Sea-blue histiocyte syndrome | 1 test |
Seborrheic keratosis | 1 test |
Seckel syndrome 10 | 1 test |
Seckel syndrome 2 | 1 test |
Seckel syndrome 4 | 1 test |
Seckel syndrome 5 | 1 test |
Seckel syndrome 7 | 1 test |
Seckel syndrome 8 | 1 test |
Seckel syndrome 9 | 1 test |
Seizures, benign familial infantile, 2 | 1 test |
Seizures, benign familial infantile, 3 | 1 test |
Seizures, benign familial infantile, 5 | 1 test |
Seizures, benign familial neonatal, 1 | 1 test |
Seizures, benign familial neonatal, 2 | 1 test |
Sengers syndrome | 1 test |
Senior-Loken syndrome 1 | 1 test |
Senior-Loken syndrome 4 | 1 test |
Senior-Loken syndrome 5 | 1 test |
Senior-Loken syndrome 6 | 1 test |
Senior-Loken syndrome 7 | 1 test |
Senior-Loken syndrome 8 | 1 test |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 test |
Sessile serrated polyposis cancer syndrome | 1 test |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 1 test |
Severe dermatitis-multiple allergies-metabolic wasting syndrome | 1 test |
Severe early-childhood-onset retinal dystrophy | 2 tests |
Severe intellectual disability-progressive spastic diplegia syndrome | 1 test |
Severe myoclonic epilepsy in infancy | 1 test |
Severe neonatal-onset encephalopathy with microcephaly | 1 test |
Short QT syndrome type 1 | 2 tests |
Short QT syndrome type 2 | 2 tests |
Short QT syndrome type 3 | 2 tests |
Short stature due to primary acid-labile subunit deficiency | 1 test |
Short stature with nonspecific skeletal abnormalities | 1 test |
Short stature, Dauber-Argente type | 1 test |
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | 1 test |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 1 test |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 1 test |
Short stature, microcephaly, and endocrine dysfunction | 1 test |
Short stature, oligodontia, dysmorphic facies, and motor delay | 1 test |
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 test |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 test |
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 test |
Short-rib thoracic dysplasia 10 with or without polydactyly | 1 test |
Short-rib thoracic dysplasia 14 with polydactyly | 1 test |
Short-rib thoracic dysplasia 16 with or without polydactyly | 1 test |
Short-rib thoracic dysplasia 18 with polydactyly | 1 test |
Short-rib thoracic dysplasia 19 with or without polydactyly | 1 test |
Short-rib thoracic dysplasia 20 with polydactyly | 1 test |
Short-rib thoracic dysplasia 21 without polydactyly | 1 test |
Short-rib thoracic dysplasia 6 with or without polydactyly | 1 test |
Short-rib thoracic dysplasia 7 with or without polydactyly | 1 test |
Shprintzen-Goldberg syndrome | 1 test |
Sialic acid storage disease, severe infantile type | 1 test |
Sialidosis type 2 | 1 test |
Sick sinus syndrome 1 | 2 tests |
Sick sinus syndrome 3, susceptibility to | 1 test |
Silver-Russell syndrome 3 | 1 test |
Silver-russell syndrome 4 | 1 test |
Simpson-Golabi-Behmel syndrome type 2 | 1 test |
Singleton-Merten syndrome 1 | 1 test |
Singleton-Merten syndrome 2 | 1 test |
Sitosterolemia 1 | 1 test |
Sitosterolemia 2 | 1 test |
Sjögren-Larsson syndrome | 1 test |
Small cell lung carcinoma | 1 test |
Smith-McCort dysplasia 2 | 1 test |
Sneddon syndrome | 1 test |
Snowflake vitreoretinal degeneration | 1 test |
Sodium serum level quantitative trait locus 1 | 1 test |
Solitary median maxillary central incisor syndrome | 1 test |
Sorsby fundus dystrophy | 1 test |
Southeast Asian ovalocytosis | 1 test |
Spastic ataxia 1 | 1 test |
Spastic ataxia 2 | 1 test |
Spastic ataxia 3 | 1 test |
Spastic ataxia 4 | 1 test |
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 test |
Spastic paraplegia 80, autosomal dominant | 1 test |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 test |
Spastic tetraplegia and axial hypotonia, progressive | 1 test |
Spermatogenic failure 58 | 1 test |
Spermatogenic failure 8 | 1 test |
Spermatogenic failures 50 | 1 test |
Sphingolipid activator protein 1 deficiency | 1 test |
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 1 test |
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 test |
Spinocerebellar ataxia 43 | 1 test |
Spinocerebellar ataxia 44 | 1 test |
Spinocerebellar ataxia 47 | 1 test |
Spinocerebellar ataxia 48 | 1 test |
Spinocerebellar ataxia type 11 | 1 test |
Spinocerebellar ataxia type 13 | 1 test |
Spinocerebellar ataxia type 14 | 1 test |
Spinocerebellar ataxia type 15/16 | 1 test |
Spinocerebellar ataxia type 19/22 | 1 test |
Spinocerebellar ataxia type 21 | 1 test |
Spinocerebellar ataxia type 23 | 1 test |
Spinocerebellar ataxia type 29 | 1 test |
Spinocerebellar ataxia type 34 | 1 test |
Spinocerebellar ataxia type 35 | 1 test |
Spinocerebellar ataxia type 42 | 1 test |
Spinocerebellar ataxia type 5 | 1 test |
Spinocerebellar ataxia type 6 | 1 test |
Spinocerebellar ataxia, autosomal recessive 24 | 1 test |
Spinocerebellar ataxia, autosomal recessive 27 | 1 test |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 1 test |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 test |
Split hand-foot malformation 4 | 1 test |
Split hand-foot malformation 6 | 1 test |
Sponastrime dysplasia | 1 test |
Spondylo-megaepiphyseal-metaphyseal dysplasia | 1 test |
Spondylocostal dysostosis 2, autosomal recessive | 1 test |
Spondylocostal dysostosis 3, autosomal recessive | 1 test |
Spondylocostal dysostosis 4, autosomal recessive | 1 test |
Spondylocostal dysostosis 5 | 1 test |
Spondyloenchondrodysplasia with immune dysregulation | 1 test |
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 1 test |
Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 test |
Spondyloepimetaphyseal dysplasia, Genevieve type | 1 test |
Spondyloepimetaphyseal dysplasia, Maroteaux type | 1 test |
Spondyloepimetaphyseal dysplasia, Missouri type | 1 test |
Spondyloepimetaphyseal dysplasia, PAPSS2 type | 1 test |
Spondyloepimetaphyseal dysplasia, matrilin-3 type | 1 test |
Spondyloepiphyseal dysplasia tarda, X-linked | 1 test |
Spondyloepiphyseal dysplasia, kondo-fu type | 1 test |
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 1 test |
Spondylometaphyseal dysplasia - Sutcliffe type | 1 test |
Spondylometaphyseal dysplasia, Kozlowski type | 1 test |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 1 test |
Spongiform encephalopathy with neuropsychiatric features | 1 test |
Stapes ankylosis with broad thumbs and toes | 1 test |
Stargardt disease 3 | 1 test |
Stargardt disease 4 | 1 test |
Steatocystoma multiplex | 1 test |
Sterile multifocal osteomyelitis with periostitis and pustulosis | 1 test |
Sterol carrier protein 2 deficiency | 1 test |
Stiff skin syndrome | 2 tests |
Striatonigral degeneration, childhood-onset | 1 test |
Structural brain anomalies with impaired intellectual development and craniosynostosis | 1 test |
Sturge-Weber syndrome | 1 test |
Stuttering, familial persistent, 1 | 1 test |
Stüve-Wiedemann syndrome 1 | 1 test |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 test |
Supranuclear palsy, progressive, 1 | 1 test |
Supravalvar aortic stenosis | 1 test |
Susceptibility to HIV infection | 1 test |
Susceptibility to mononeuropathy of the median nerve, mild | 1 test |
Sweeney-Cox syndrome | 1 test |
Symmetrical dyschromatosis of extremities | 1 test |
Symphalangism-brachydactyly syndrome | 1 test |
Syndactyly type 3 | 1 test |
Syndactyly type 4 | 1 test |
Syndactyly type 5 | 1 test |
Syndromic X-linked intellectual disability 14 | 1 test |
Syndromic X-linked intellectual disability Lubs type | 1 test |
Syndromic X-linked intellectual disability Nascimento type | 1 test |
Syndromic microphthalmia type 5 | 1 test |
Synpolydactyly type 1 | 1 test |
Systemic lupus erythematosus | 1 test |
TCF12-related craniosynostosis | 1 test |
TMEM165-congenital disorder of glycosylation | 1 test |
TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
TWIST1-related craniosynostosis | 1 test |
Tall stature-scoliosis-macrodactyly of the great toes syndrome | 1 test |
Tangier disease | 1 test |
Tarsal-carpal coalition syndrome | 1 test |
Telangiectasia, hereditary hemorrhagic, type 1 | 2 tests |
Telangiectasia, hereditary hemorrhagic, type 2 | 2 tests |
Telangiectasia, hereditary hemorrhagic, type 5 | 1 test |
Temtamy preaxial brachydactyly syndrome | 1 test |
Terminal osseous dysplasia-pigmentary defects syndrome | 2 tests |
Tetraamelia syndrome 1 | 1 test |
Tetralogy of Fallot | 4 tests |
Thanatophoric dysplasia type 1 | 1 test |
Thanatophoric dysplasia, type 2 | 1 test |
Thiel-Behnke corneal dystrophy | 1 test |
Thrombophilia due to protein S deficiency, autosomal dominant | 1 test |
Thrombophilia due to protein S deficiency, autosomal recessive | 1 test |
Thyroid cancer, nonmedullary, 2 | 3 tests |
Thyrotoxic periodic paralysis, susceptibility to, 1 | 1 test |
Tibia, hypoplasia or aplasia of, with polydactyly | 1 test |
Tibial muscular dystrophy | 1 test |
Timothy syndrome | 1 test |
Tobacco addiction, susceptibility to | 1 test |
Tooth agenesis, selective, 4 | 1 test |
Tooth agenesis, selective, 8 | 1 test |
Tooth agenesis, selective, X-linked, 1 | 1 test |
Toriello-Lacassie-Droste syndrome | 1 test |
Torsion dystonia 2 | 1 test |
Torsion dystonia 4 | 1 test |
Torsion dystonia 6 | 2 tests |
Townes-Brocks syndrome 1 | 1 test |
Transient bullous dermolysis of the newborn | 2 tests |
Transient infantile hypertriglyceridemia and hepatosteatosis | 1 test |
Transketolase deficiency | 1 test |
Treacher Collins syndrome 1 | 1 test |
Treacher Collins syndrome 2 | 1 test |
Treacher Collins syndrome 3 | 1 test |
Tricho-dento-osseous syndrome | 1 test |
Trichoepithelioma, multiple familial, 1 | 1 test |
Trichohepatoenteric syndrome 2 | 1 test |
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 1 test |
Trichorhinophalangeal dysplasia type I | 1 test |
Trichorhinophalangeal syndrome, type III | 1 test |
Trichothiodystrophy 1, photosensitive | 1 test |
Trichothiodystrophy 2, photosensitive | 1 test |
Trichothiodystrophy 3, photosensitive | 1 test |
Trichothiodystrophy 4, nonphotosensitive | 1 test |
Triglyceride storage disease with ichthyosis | 1 test |
Tropical pancreatitis | 1 test |
Troyer syndrome | 1 test |
Tuberous sclerosis 1 | 2 tests |
Tuberous sclerosis 2 | 2 tests |
Tumor predisposition syndrome 3 | 1 test |
Type 2 diabetes mellitus | 7 tests |
Type A2 brachydactyly | 2 tests |
Tyrosinemia type II | 1 test |
Ullrich congenital muscular dystrophy 1A | 1 test |
Ulnar-mammary syndrome | 1 test |
Usher syndrome type 1 | 1 test |
Usher syndrome type 1C | 1 test |
Usher syndrome type 1D | 2 tests |
Usher syndrome type 1F | 1 test |
Usher syndrome type 1G | 1 test |
Usher syndrome type 1J | 1 test |
Usher syndrome type 2A | 3 tests |
Usher syndrome type 2C | 2 tests |
Usher syndrome type 2D | 1 test |
Usher syndrome type 3A | 1 test |
VACTERL association, X-linked, with or without hydrocephalus | 1 test |
Van den Ende-Gupta syndrome | 1 test |
Van der Woude syndrome 1 | 1 test |
Vasculitis due to ADA2 deficiency | 1 test |
Velocardiofacial syndrome | 1 test |
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 2 tests |
Ventricular fibrillation, paroxysmal familial, type 1 | 2 tests |
Ventricular septal defect 2 | 1 test |
Ventricular septal defect 3 | 1 test |
Ventriculomegaly and arthrogryposis | 1 test |
Vesicoureteral reflux 8 | 2 tests |
Visceral myopathy 2 | 1 test |
Vitamin D hydroxylation-deficient rickets, type 1B | 1 test |
Vitamin D-dependent rickets type II with alopecia | 1 test |
Vitelliform macular dystrophy 2 | 2 tests |
Vitelliform macular dystrophy 3 | 2 tests |
Vitelliform macular dystrophy 4 | 1 test |
Vitelliform macular dystrophy 5 | 1 test |
Vitiligo-associated multiple autoimmune disease susceptibility 1 | 1 test |
Von Hippel-Lindau syndrome | 2 tests |
Waardenburg syndrome type 1 | 1 test |
Waardenburg syndrome type 2E | 1 test |
Waardenburg syndrome type 3 | 1 test |
Waardenburg syndrome type 4B | 1 test |
Waardenburg syndrome type 4C | 1 test |
Warburg micro syndrome 1 | 1 test |
Warburg micro syndrome 2 | 1 test |
Warburg micro syndrome 3 | 1 test |
Weill-Marchesani syndrome 2, dominant | 2 tests |
Werner syndrome | 1 test |
White sponge nevus 1 | 1 test |
White sponge nevus 2 | 1 test |
Wiedemann-Steiner syndrome | 1 test |
Wilms tumor 1 | 3 tests |
Wolff-Parkinson-White pattern | 1 test |
Wolfram syndrome 1 | 2 tests |
Wolfram syndrome 2 | 1 test |
Wolfram-like syndrome | 2 tests |
Wooly hair-palmoplantar keratoderma syndrome | 1 test |
Worth disease | 1 test |
X-linked Alport syndrome | 2 tests |
X-linked chondrodysplasia punctata 1 | 1 test |
X-linked complicated corpus callosum dysgenesis | 1 test |
X-linked cone-rod dystrophy 1 | 2 tests |
X-linked cone-rod dystrophy 3 | 1 test |
X-linked hydrocephalus syndrome | 1 test |
X-linked ichthyosis with steryl-sulfatase deficiency | 2 tests |
X-linked intellectual disability with marfanoid habitus | 1 test |
X-linked intellectual disability, van Esch type | 1 test |
X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 test |
X-linked lissencephaly with abnormal genitalia | 1 test |
X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 test |
X-linked lymphoproliferative disease due to XIAP deficiency | 1 test |
X-linked reticulate pigmentary disorder | 1 test |
Xeroderma pigmentosum group B | 1 test |
Xeroderma pigmentosum, group D | 1 test |
Yao syndrome | 1 test |