| 10p15.3 microdeletion syndrome | 1 | Feb 9, 2022 |
| 16p13.11 microdeletion syndrome | 1 | Feb 9, 2022 |
| 2-aminoadipic 2-oxoadipic aciduria | 1 | Mar 13, 2018 |
| 3-Methylglutaconic aciduria type 3 | 3 | Feb 9, 2022 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 | Aug 22, 2017 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Aug 22, 2017 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Feb 9, 2022 |
| 8q24.3 microdeletion syndrome | 2 | Feb 9, 2022 |
| ABCB4-related disorders | 1 | Mar 13, 2018 |
| ABCD syndrome | 1 | Mar 13, 2018 |
| ABL1-Related Disorder | 1 | Apr 20, 2020 |
| ACO2-related disorder | 1 | Aug 22, 2017 |
| ACO2-related disorders | 1 | Aug 22, 2017 |
| ACTG2-Related Disorder | 1 | Jan 30, 2019 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Apr 20, 2020 |
| ADPRHL2-Related Disorder | 1 | Feb 9, 2022 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Jan 30, 2019 |
| AKT3-Related Disorder | 1 | Apr 20, 2020 |
| ALDH18A1-related de Barsy syndrome | 1 | Aug 22, 2017 |
| ALG2-CDG | 1 | Apr 20, 2020 |
| AP4S1-related disorder | 1 | Apr 20, 2020 |
| APC-Associated Polyposis Disorders | 3 | Feb 9, 2022 |
| APC-related attenuated familial adenomatous polyposis | 2 | Feb 9, 2022 |
| APS41-Related disorder | 1 | Apr 20, 2020 |
| ARX-related epileptic encephalopathy | 1 | Feb 9, 2022 |
| ASH1L-Related Disorder | 1 | Apr 20, 2020 |
| ATRX-Related Disorder | 2 | Feb 9, 2022 |
| AXIN2-related attenuated familial adenomatous polyposis | 1 | Feb 9, 2022 |
| Abnormality of the pancreas | 1 | Apr 20, 2020 |
| Achondroplasia | 1 | Mar 13, 2018 |
| Acquired polycythemia vera | 1 | Mar 13, 2018 |
| Acrodysostosis 1 with or without hormone resistance | 1 | Feb 9, 2022 |
| Acromelic frontonasal dysostosis | 2 | Jan 30, 2019 |
| Acromesomelic dysplasia 1, Maroteaux type | 1 | Apr 20, 2020 |
| Actin accumulation myopathy | 1 | Feb 9, 2022 |
| Action myoclonus-renal failure syndrome | 1 | Feb 9, 2022 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 | Aug 22, 2017 |
| Acute intermittent porphyria | 2 | Aug 22, 2017 |
| Acute myeloid leukemia | 2 | Mar 13, 2018 |
| Adams-Oliver syndrome 2 | 1 | Mar 13, 2018 |
| Adams-Oliver syndrome 5 | 2 | Jan 30, 2019 |
| Agammaglobulinemia 7, autosomal recessive | 1 | Mar 13, 2018 |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 | Aug 22, 2017 |
| Aicardi-Goutieres syndrome 7 | 1 | Apr 20, 2020 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Feb 9, 2022 |
| Alpha-1-antitrypsin deficiency | 1 | Nov 24, 2021 |
| Alpha-thalassemia and related diseases | 1 | Feb 9, 2022 |
| Alport syndrome | 1 | Feb 9, 2022 |
| Alstrom syndrome | 2 | Jan 30, 2019 |
| Amyloidogenic transthyretin amyloidosis | 1 | Apr 20, 2020 |
| Amyotrophic lateral sclerosis type 1 | 1 | Apr 20, 2020 |
| Amyotrophic neuralgia | 1 | Feb 9, 2022 |
| Andersen Tawil syndrome | 1 | Feb 9, 2022 |
| Aneurysm of thoracic aorta | 1 | Aug 22, 2017 |
| Aneurysm-osteoarthritis syndrome | 1 | Jan 30, 2019 |
| Angelman syndrome | 2 | Apr 20, 2020 |
| Anterior segment dysgenesis 1 | 1 | Jan 30, 2019 |
| Aortic aneurysm, familial thoracic 10 | 1 | Apr 20, 2020 |
| Aortic aneurysm, familial thoracic 4 | 1 | Jan 30, 2019 |
| Aortic aneurysm, familial thoracic 6 | 1 | Feb 9, 2022 |
| Aortic aneurysm, familial thoracic 7 | 2 | Feb 9, 2022 |
| Aortic aneurysm, familial thoracic 8 | 1 | Jan 30, 2019 |
| Aortic aneurysm, familial thoracic, TGFB2 related | 1 | Feb 9, 2022 |
| Aortic valve disease 1 | 2 | Jan 30, 2019 |
| Arginase deficiency | 1 | Mar 13, 2018 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Feb 9, 2022 |
| Arterial tortuosity syndrome | 1 | Apr 20, 2020 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2 | Jan 30, 2019 |
| Ataxia-telangiectasia syndrome | 2 | Jan 30, 2019 |
| Ataxia-telangiectasia-like disorder 1 | 1 | Apr 20, 2020 |
| Atrial fibrillation, familial, 1 | 1 | Feb 9, 2022 |
| Atrial fibrillation, familial, 12 | 1 | Nov 17, 2017 |
| Autism spectrum disorder | 2 | Feb 9, 2022 |
| Autism, susceptibility to, 18 | 1 | Mar 13, 2018 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Jan 30, 2019 |
| Autosomal dominant Kenny-Caffey syndrome | 1 | Apr 20, 2020 |
| Autosomal dominant Parkinson disease 1 | 1 | Feb 9, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Feb 9, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2 | Feb 9, 2022 |
| Autosomal dominant congenital benign spinal muscular atrophy | 1 | Feb 9, 2022 |
| Autosomal dominant distal renal tubular acidosis | 1 | Mar 13, 2018 |
| Autosomal dominant familial acute myeloid leukemia | 1 | Aug 22, 2017 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Mar 13, 2018 |
| Autosomal dominant medullary cystic kidney disease with hyperuricemia | 1 | Feb 9, 2022 |
| Autosomal dominant mitochondrial myopathy with exercise intolerance | 1 | Mar 13, 2018 |
| Autosomal dominant nocturnal frontal lobe epilepsy | 1 | Feb 9, 2022 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Jan 30, 2019 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Jan 30, 2019 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Feb 9, 2022 |
| Autosomal dominant nonsyndromic hearing loss 13 | 2 | Jan 30, 2019 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Aug 22, 2017 |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 | Feb 9, 2022 |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 | Feb 9, 2022 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Apr 20, 2020 |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 | Apr 20, 2020 |
| Autosomal dominant nonsyndromic hearing loss 6 | 5 | Feb 9, 2022 |
| Autosomal dominant optic atrophy classic form | 2 | Feb 9, 2022 |
| Autosomal dominant osteopetrosis 1 | 1 | Feb 9, 2022 |
| Autosomal dominant retinitis pigmentosa | 1 | Aug 22, 2017 |
| Autosomal recessive Alport syndrome | 1 | Feb 9, 2022 |
| Autosomal recessive DOPA responsive dystonia | 1 | Mar 13, 2018 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 2 | Feb 9, 2022 |
| Autosomal recessive ataxia, Beauce type | 2 | Apr 20, 2020 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Aug 22, 2017 |
| Autosomal recessive congenital ichthyosis 3 | 2 | Apr 20, 2020 |
| Autosomal recessive juvenile Parkinson disease 2 | 1 | Feb 9, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 | Apr 20, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Nov 24, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Jan 30, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 7 | Nov 24, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 3 | Mar 13, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 2 | Jan 30, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Feb 9, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 4 | Feb 9, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2R | 1 | Feb 9, 2022 |
| Autosomal recessive lower motor neuron disease with childhood onset | 1 | Jan 30, 2019 |
| Autosomal recessive multiple pterygium syndrome | 1 | Aug 22, 2017 |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 | Jan 30, 2019 |
| Autosomal recessive nonsyndromic hearing loss 16 | 2 | Apr 20, 2020 |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 | Feb 9, 2022 |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 | Jan 30, 2019 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Feb 9, 2022 |
| Autosomal recessive nonsyndromic hearing loss 3 | 4 | Feb 9, 2022 |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 | Feb 9, 2022 |
| Autosomal recessive nonsyndromic hearing loss 53 | 2 | Jan 30, 2019 |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 | Feb 9, 2022 |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 | Jan 30, 2019 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Jan 30, 2019 |
| Autosomal recessive nonsyndromic hearing loss 84B | 3 | Apr 21, 2020 |
| Autosomal recessive nonsyndromic hearing loss 98 | 1 | Jan 30, 2019 |
| Autosomal recessive osteopetrosis 1 | 1 | Aug 22, 2017 |
| Autosomal recessive polycystic kidney disease | 5 | Jan 30, 2019 |
| Autosomal recessive spinocerebellar ataxia 12 | 1 | Jan 30, 2019 |
| Autosomal recessive spinocerebellar ataxia 13 | 1 | Feb 9, 2022 |
| Autosomal recessive spinocerebellar ataxia 14 | 2 | Mar 13, 2018 |
| Autosomal recessive spinocerebellar ataxia 20 | 2 | Feb 9, 2022 |
| Autosomal recessive spinocerebellar ataxia 7 | 2 | Jul 17, 2020 |
| Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | 1 | Mar 13, 2018 |
| BAP1-related tumor predisposition syndrome | 2 | Feb 9, 2022 |
| BCAP31-Related Disorder | 1 | Feb 9, 2022 |
| BRCA2-Related Disorders | 2 | Feb 9, 2022 |
| BRWD3-Related Disorder | 1 | Jan 30, 2019 |
| Baller-Gerold syndrome | 1 | Feb 9, 2022 |
| Bardet-Biedl syndrome | 1 | Aug 22, 2017 |
| Bardet-Biedl syndrome 1 | 1 | Apr 20, 2020 |
| Bardet-Biedl syndrome 22 | 1 | Jan 30, 2019 |
| Becker muscular dystrophy | 4 | Apr 20, 2020 |
| Benign neonatal seizures | 1 | Apr 20, 2020 |
| Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 3 | Feb 9, 2022 |
| Bernard Soulier syndrome | 2 | Mar 13, 2018 |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 1 | Mar 13, 2018 |
| Beta-D-mannosidosis | 1 | Mar 13, 2018 |
| Bethlem myopathy 1 | 6 | Feb 9, 2022 |
| Bethlem myopathy 2 | 3 | Feb 9, 2022 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Aug 22, 2017 |
| Biotinidase deficiency | 3 | Apr 20, 2020 |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 1 | Feb 9, 2022 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Feb 9, 2022 |
| Brachydactyly | 2 | Feb 9, 2022 |
| Brachydactyly syndrome type E | 1 | Feb 9, 2022 |
| Brachydactyly type A2 | 1 | Aug 22, 2017 |
| Brachydactyly type B1 | 1 | Aug 22, 2017 |
| Brachyolmia-amelogenesis imperfecta syndrome | 3 | Feb 9, 2022 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | Mar 13, 2018 |
| Branchiootorenal syndrome 1 | 1 | Feb 9, 2022 |
| Breast cancer, susceptibility to | 1 | Jan 30, 2019 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 | Feb 9, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 3 | Apr 20, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 2 | Apr 20, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 2 | Feb 9, 2022 |
| Brittle cornea syndrome 1 | 4 | Feb 9, 2022 |
| Brittle cornea syndrome 2 | 1 | Feb 9, 2022 |
| Brody myopathy | 1 | Feb 9, 2022 |
| Bronze diabetes | 2 | Apr 20, 2020 |
| Brugada syndrome | 3 | Aug 22, 2017 |
| CACNA1A-Related Disorder | 2 | Apr 20, 2020 |
| CACNA1C-Related Disorder | 1 | Jan 30, 2019 |
| CACNA1D-related disorder | 1 | Feb 9, 2022 |
| CACNA1G-related disorders | 1 | Aug 22, 2017 |
| CACNA1H-related disorder | 1 | Nov 17, 2017 |
| CASK-Related Disorder | 2 | Jan 30, 2019 |
| CBL-related disorder | 1 | Apr 20, 2020 |
| CEP290-related ciliopathies | 1 | Aug 22, 2017 |
| CFTR-related disorders | 1 | Nov 24, 2021 |
| CHARGE association | 1 | Aug 22, 2017 |
| CHD2-Related Disorder | 2 | Feb 9, 2022 |
| CHD3-Related Disorder | 2 | Apr 20, 2020 |
| CHD8-Related Disorder | 1 | Feb 9, 2022 |
| CHD8-Related Disorders | 1 | Mar 13, 2018 |
| CLCN4-related disorder | 1 | Aug 22, 2017 |
| CLTC-Related Disorder | 1 | Jan 30, 2019 |
| CNOT1-Related Disorder | 2 | Apr 20, 2020 |
| COG6-CGD | 1 | Mar 13, 2018 |
| COL11A2- Related Disorder | 1 | Jan 30, 2019 |
| COL12A1- Related Disorder | 1 | Apr 20, 2020 |
| COL1A2-Related Disorder | 3 | Jan 30, 2019 |
| COL2A1-Related Disorder | 1 | Mar 13, 2018 |
| COL3A1-Related Disorder | 1 | Jan 30, 2019 |
| COL4A1-Related Disorder | 1 | Aug 22, 2017 |
| COL6A1-related Disorder | 1 | Aug 22, 2017 |
| CR2-Related Disorders | 1 | Feb 9, 2022 |
| CSNK2A1- Related Disorders | 1 | Aug 22, 2017 |
| CSNK2B-Related Disorder | 1 | Feb 9, 2022 |
| CTCF-Related Disorder | 1 | Apr 20, 2020 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Mar 13, 2018 |
| Cardiac arrhythmia | 1 | Aug 22, 2017 |
| Cardiac arrhythmia, ankyrin-B-related | 4 | Feb 9, 2022 |
| Cardiac valvular dysplasia, X-linked | 1 | Aug 22, 2017 |
| Cardiomyopathy | 2 | Dec 15, 2017 |
| Carney complex | 2 | Feb 9, 2022 |
| Carney-Stratakis syndrome | 1 | Mar 13, 2018 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 1 | Apr 20, 2020 |
| Carnitine palmitoyltransferase II deficiency | 1 | Apr 20, 2020 |
| Cataract 5 multiple types | 1 | Mar 13, 2018 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 4 | Feb 9, 2022 |
| Central core myopathy | 3 | Apr 20, 2020 |
| Centronuclear myopathy | 1 | Aug 22, 2017 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 2 | Feb 9, 2022 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease axonal type 2C | 2 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease axonal type 2L | 2 | Apr 20, 2020 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Aug 22, 2017 |
| Charcot-Marie-Tooth disease axonal type 2O | 2 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease axonal type 2P | 2 | Aug 22, 2017 |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 | Mar 13, 2018 |
| Charcot-Marie-Tooth disease axonal type 2T | 1 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Jan 30, 2019 |
| Charcot-Marie-Tooth disease recessive intermediate C | 1 | Jan 30, 2019 |
| Charcot-Marie-Tooth disease type 1B | 2 | Jan 30, 2019 |
| Charcot-Marie-Tooth disease type 1E | 1 | Jan 30, 2019 |
| Charcot-Marie-Tooth disease type 2 | 1 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease type 2B1 | 3 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease type 2D | 1 | Aug 22, 2017 |
| Charcot-Marie-Tooth disease type 2J | 1 | Jan 30, 2019 |
| Charcot-Marie-Tooth disease type 4F | 1 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease type 4K | 1 | Mar 13, 2018 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Feb 9, 2022 |
| Charcot-Marie-Tooth disease, type IA | 1 | Jan 30, 2019 |
| Charlevoix-Saguenay spastic ataxia | 2 | Mar 13, 2018 |
| Childhood onset GLUT1 deficiency syndrome 2 | 2 | Mar 13, 2018 |
| Cholestanol storage disease | 1 | Apr 20, 2020 |
| Chromosome 15q13.3 microdeletion syndrome | 1 | Aug 22, 2017 |
| Chromosome 16p11.2 duplication syndrome | 2 | Feb 9, 2022 |
| Chromosome 17p13.3 duplication syndrome | 1 | Feb 9, 2022 |
| Chromosome 1q21.1 deletion syndrome | 1 | Jan 30, 2019 |
| Chromosome 2q23.1 deletion syndrome | 2 | Jan 30, 2019 |
| Chromosome Xp21 deletion syndrome | 1 | Jan 30, 2019 |
| Chromosome Xq28 duplication syndrome | 1 | Feb 9, 2022 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Aug 22, 2017 |
| Citrullinemia type I | 1 | Aug 22, 2017 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 | Feb 9, 2022 |
| Cobalamin C disease | 1 | Jan 30, 2019 |
| Coffin-Siris syndrome | 3 | Feb 9, 2022 |
| Coffin-Siris syndrome 1 | 1 | Apr 20, 2020 |
| Cohen syndrome | 4 | Mar 13, 2018 |
| Collagen 6-related myopathy | 2 | Mar 13, 2018 |
| Colon cancer, susceptibility to | 1 | Jan 30, 2019 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Mar 13, 2018 |
| Colorectal cancer, hereditary nonpolyposis, type 4 | 1 | Feb 9, 2022 |
| Colorectal cancer, hereditary nonpolyposis, type 5 | 2 | Feb 9, 2022 |
| Colorectal cancer, hereditary nonpolyposis, type 8 | 1 | Apr 20, 2020 |
| Colorectal cancer, susceptibility to, 10 | 1 | Feb 9, 2022 |
| Colorectal cancer, susceptibility to, 12 | 1 | Nov 24, 2021 |
| Combined immunodeficiency due to DOCK8 deficiency | 3 | Apr 20, 2020 |
| Combined oxidative phosphorylation defect type 11 | 1 | Aug 22, 2017 |
| Combined oxidative phosphorylation defect type 13 | 1 | Jan 30, 2019 |
| Combined oxidative phosphorylation defect type 15 | 1 | Aug 22, 2017 |
| Combined oxidative phosphorylation defect type 20 | 1 | Mar 13, 2018 |
| Combined oxidative phosphorylation defect type 23 | 1 | Apr 20, 2020 |
| Combined oxidative phosphorylation defect type 24 | 2 | Feb 9, 2022 |
| Combined oxidative phosphorylation defect type 27 | 1 | Mar 13, 2018 |
| Combined oxidative phosphorylation defect type 8 | 2 | Feb 9, 2022 |
| Combined oxidative phosphorylation defect type 9 | 1 | Aug 22, 2017 |
| Combined oxidative phosphorylation deficiency 39 | 3 | Feb 9, 2022 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Feb 9, 2022 |
| Complex cortical dysplasia with other brain malformations 2 | 1 | Apr 20, 2020 |
| Complex cortical dysplasia with other brain malformations 6 | 2 | Feb 9, 2022 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | Feb 9, 2022 |
| Cone-rod dystrophy | 1 | Jan 30, 2019 |
| Congenital aneurysm of ascending aorta | 5 | Feb 9, 2022 |
| Congenital aniridia | 1 | Mar 13, 2018 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Feb 9, 2022 |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 | Mar 13, 2018 |
| Congenital contractural arachnodactyly | 4 | Feb 9, 2022 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 2 | Feb 9, 2022 |
| Congenital disorder of glycosylation type Ir | 2 | Mar 13, 2018 |
| Congenital disorder of glycosylation, type iit | 1 | Feb 9, 2022 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Apr 20, 2020 |
| Congenital hyperammonemia, type I | 1 | Mar 13, 2018 |
| Congenital hypomyelinating neuropathy | 1 | Jan 30, 2019 |
| Congenital hypothyroidism | 1 | Jan 30, 2019 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2 | Feb 9, 2022 |
| Congenital multicore myopathy with external ophthalmoplegia | 3 | Apr 20, 2020 |
| Congenital muscular dystrophy due to LMNA mutation | 3 | Feb 9, 2022 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2 | Apr 20, 2020 |
| Congenital myasthenic syndrome 10 | 1 | Feb 9, 2022 |
| Congenital myasthenic syndrome 11 | 1 | Feb 9, 2022 |
| Congenital myasthenic syndrome 13 | 1 | Jan 30, 2019 |
| Congenital myasthenic syndrome 8 | 2 | Feb 9, 2022 |
| Congenital myopathy with fiber type disproportion | 2 | Apr 20, 2020 |
| Congenital myotonia, autosomal dominant form | 1 | Feb 9, 2022 |
| Congenital myotonia, autosomal recessive form | 1 | Feb 9, 2022 |
| Congenital primary aphakia | 1 | Jan 30, 2019 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 | Nov 17, 2017 |
| Congenital stationary night blindness | 1 | Aug 22, 2017 |
| Congenital stationary night blindness 1E | 1 | Feb 9, 2022 |
| Congenital stationary night blindness 1F | 1 | Jan 30, 2019 |
| Cornelia de Lange syndrome 1 | 1 | Apr 20, 2020 |
| Coronary artery disorder | 1 | Jan 30, 2019 |
| Cortical dysplasia-focal epilepsy syndrome | 3 | Feb 9, 2022 |
| Corticosterone methyloxidase type 2 deficiency | 1 | Apr 20, 2020 |
| Cowden syndrome | 1 | Feb 9, 2022 |
| Cowden syndrome 1 | 1 | Mar 13, 2018 |
| Creatine transporter deficiency | 1 | Mar 13, 2018 |
| Crouzon syndrome-acanthosis nigricans syndrome | 1 | Mar 13, 2018 |
| Cutis Laxa Syndrome | 1 | Aug 22, 2017 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 5 | Feb 9, 2022 |
| Cutis laxa, autosomal dominant 1 | 3 | Feb 9, 2022 |
| Cutis laxa, autosomal dominant 2 | 1 | Apr 20, 2020 |
| Cutis laxa, autosomal dominant 3 | 1 | Aug 22, 2017 |
| Cutis laxa, autosomal recessive, type 1A | 1 | Apr 20, 2020 |
| Cystic fibrosis | 6 | Nov 24, 2021 |
| Cytochrome-c oxidase deficiency disease | 3 | Aug 22, 2017 |
| DCHS1-related disorder | 2 | Feb 9, 2022 |
| DCTN1-Related Disorder | 2 | Jan 30, 2019 |
| DDX3X-Related Disorder | 2 | Apr 20, 2020 |
| DEPDC5-Related Disorder | 2 | Aug 22, 2017 |
| DIABLO-Related Hearing Loss | 1 | Apr 20, 2020 |
| DICER1 syndrome | 1 | Feb 9, 2022 |
| DLG3-Related Disorder | 1 | Apr 20, 2020 |
| DMD-Related Disorder | 1 | Apr 20, 2020 |
| DNMT1-Related Disorder | 1 | Aug 22, 2017 |
| DNMT3A-Related Disorder | 1 | Apr 20, 2020 |
| DOCK2 deficiency | 1 | Feb 9, 2022 |
| DPAGT1-CDG | 1 | Jan 30, 2019 |
| DSPP-Related Disorder | 1 | Apr 20, 2020 |
| DYNC1H1-related disorders | 1 | Aug 22, 2017 |
| DYNC2H1-Related Disorder | 2 | Apr 20, 2020 |
| DYSF- Related Disorder | 1 | Aug 22, 2017 |
| DYSF-Related Disorders | 1 | Feb 9, 2022 |
| Deafness | 2 | Aug 22, 2017 |
| Deficiency of butyryl-CoA dehydrogenase | 3 | Feb 9, 2022 |
| Deficiency of butyrylcholinesterase | 3 | Feb 9, 2022 |
| Deficiency of iodide peroxidase | 1 | Jul 17, 2020 |
| Deficiency of isobutyryl-CoA dehydrogenase | 1 | Aug 22, 2017 |
| Deficiency of malonyl-CoA decarboxylase | 1 | Feb 9, 2022 |
| Deficiency of steroid 17-alpha-monooxygenase | 3 | Apr 20, 2020 |
| Deficiency of transaldolase | 1 | Jan 30, 2019 |
| Dejerine-Sottas disease | 2 | Jan 30, 2019 |
| Desmoid disease, hereditary | 1 | Mar 13, 2018 |
| Developmental and epileptic encephalopathy 94 | 2 | Apr 20, 2020 |
| Developmental and epileptic encephalopathy, 1 | 4 | Feb 9, 2022 |
| Developmental and epileptic encephalopathy, 11 | 2 | Apr 20, 2020 |
| Developmental and epileptic encephalopathy, 18 | 5 | Feb 9, 2022 |
| Developmental and epileptic encephalopathy, 2 | 1 | Apr 20, 2020 |
| Developmental and epileptic encephalopathy, 32 | 1 | Apr 20, 2020 |
| Developmental and epileptic encephalopathy, 33 | 1 | Jan 30, 2019 |
| Developmental and epileptic encephalopathy, 39 | 1 | Mar 13, 2018 |
| Developmental and epileptic encephalopathy, 43 | 1 | Apr 20, 2020 |
| Developmental and epileptic encephalopathy, 53 | 1 | Feb 9, 2022 |
| Developmental and epileptic encephalopathy, 54 | 1 | Apr 20, 2020 |
| Developmental and epileptic encephalopathy, 62 | 1 | Feb 9, 2022 |
| Developmental and epileptic encephalopathy, 64 | 1 | Apr 20, 2020 |
| Developmental delay | 1 | Apr 20, 2020 |
| Developmental delay with autism spectrum disorder and gait instability | 2 | Feb 9, 2022 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Feb 9, 2022 |
| Dextro-looped transposition of the great arteries 1 | 1 | Aug 22, 2017 |
| Diabetes insipidus, nephrogenic, X-linked | 1 | Aug 22, 2017 |
| Diamond-Blackfan anemia 11 | 1 | Feb 9, 2022 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | Mar 13, 2018 |
| Dilated cardiomyopathy 1A | 4 | Feb 9, 2022 |
| Dilated cardiomyopathy 1EE | 1 | Feb 9, 2022 |
| Dilated cardiomyopathy 1G | 9 | Nov 24, 2021 |
| Dilated cardiomyopathy 1GG | 1 | Aug 22, 2017 |
| Dilated cardiomyopathy 1I | 1 | Feb 9, 2022 |
| Dilated cardiomyopathy 1O | 1 | Nov 17, 2017 |
| Dilated cardiomyopathy 1W | 1 | Mar 13, 2018 |
| Dilated cardiomyopathy 3B | 1 | Aug 22, 2017 |
| Distal hereditary motor neuropathy type 2 | 1 | Feb 9, 2022 |
| Distal myopathy with anterior tibial onset | 2 | Nov 24, 2021 |
| Distal myopathy with posterior leg and anterior hand involvement | 2 | Feb 9, 2022 |
| Dominant beta-thalassemia | 1 | Mar 13, 2018 |
| Donnai-Barrow syndrome | 3 | Jan 30, 2019 |
| Duane syndrome type 1 | 1 | Mar 13, 2018 |
| Duchenne muscular dystrophy | 4 | Apr 20, 2020 |
| Dyskeratosis congenita, autosomal dominant 3 | 1 | Feb 9, 2022 |
| Dystonia 27 | 1 | Feb 9, 2022 |
| Dystonia 28, childhood-onset | 1 | Apr 20, 2020 |
| Dystonia 9 | 1 | Aug 22, 2017 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 2 | Apr 20, 2020 |
| Dystonia, primary cervical | 1 | Mar 13, 2018 |
| EAST syndrome | 1 | Jan 30, 2019 |
| ELP2-Related Disorders | 2 | Aug 22, 2017 |
| EMC1-Related Disorder | 2 | Jan 30, 2019 |
| EMILIN-1-related connective tissue disease | 1 | Feb 9, 2022 |
| EZH2-related disorder | 1 | Apr 20, 2020 |
| Early onset epileptic encephalopathy | 3 | Apr 20, 2020 |
| Early-onset Parkinson disease 20 | 1 | Feb 9, 2022 |
| Early-onset myopathy with fatal cardiomyopathy | 7 | Nov 24, 2021 |
| Ectodermal dysplasia-syndactyly syndrome 1 | 1 | Aug 22, 2017 |
| Ectopia lentis | 1 | Jan 30, 2019 |
| Ehlers-Danlos syndrome | 1 | Aug 22, 2017 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 6 | Feb 9, 2022 |
| Ehlers-Danlos syndrome progeroid type | 3 | Jan 30, 2019 |
| Ehlers-Danlos syndrome, arthrochalasis type | 4 | Feb 9, 2022 |
| Ehlers-Danlos syndrome, cardiac valvular type | 3 | Feb 9, 2022 |
| Ehlers-Danlos syndrome, classic type | 17 | Feb 9, 2022 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Apr 20, 2020 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 2 | Feb 9, 2022 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Feb 9, 2022 |
| Ehlers-Danlos syndrome, musculocontractural type | 1 | Aug 22, 2017 |
| Ehlers-Danlos syndrome, type 3 | 2 | Jan 30, 2019 |
| Ehlers-Danlos syndrome, type 4 | 8 | Apr 20, 2020 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 | Apr 20, 2020 |
| Elliptocytosis 1 | 1 | Mar 13, 2018 |
| Elliptocytosis 3 | 1 | Nov 24, 2021 |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 2 | Feb 9, 2022 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Feb 9, 2022 |
| Encephalopathy due to GLUT1 deficiency | 1 | Aug 22, 2017 |
| Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | 1 | Jan 30, 2019 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 1 | Feb 9, 2022 |
| Endometrial carcinoma | 1 | Mar 13, 2018 |
| Epidermolysis bullosa dystrophica | 2 | Apr 20, 2020 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 1 | Feb 9, 2022 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 3 | Feb 9, 2022 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 3 | Feb 9, 2022 |
| Epidermolysis bullosa simplex, Ogna type | 3 | Feb 9, 2022 |
| Epilepsy | 1 | Nov 17, 2017 |
| Epilepsy, childhood absence, susceptibility to, 6 | 2 | Jan 30, 2019 |
| Epilepsy, familial adult myoclonic, 2 | 1 | Feb 9, 2022 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Feb 9, 2022 |
| Epilepsy, focal, SCN3A related | 1 | Feb 9, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 | Aug 22, 2017 |
| Epileptic encephalopathy, infantile or early childhood, 2 | 2 | Apr 20, 2020 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Aug 22, 2017 |
| Episodic ataxia type 1 | 1 | Mar 13, 2018 |
| Episodic ataxia type 2 | 1 | Jan 30, 2019 |
| Episodic kinesigenic dyskinesia 1 | 1 | Apr 20, 2020 |
| Epsilon-trimethyllysine hydroxylase deficiency | 1 | Jan 30, 2019 |
| Essential hypertension | 1 | Mar 13, 2018 |
| Ethylmalonic encephalopathy | 1 | Aug 22, 2017 |
| Exostoses, multiple, type 2 | 1 | Apr 20, 2020 |
| Exudative vitreoretinopathy 1 | 1 | Feb 9, 2022 |
| Exudative vitreoretinopathy 4 | 1 | Feb 9, 2022 |
| FBN1-Related Disorders | 1 | Jan 30, 2019 |
| FBN1-related disorder | 1 | Feb 9, 2022 |
| FG syndrome 2 | 1 | Aug 22, 2017 |
| FKRP-Related Disorder | 1 | Jan 30, 2019 |
| FLG-Related Disorder | 1 | Feb 9, 2022 |
| FLNA related disorders | 1 | Feb 9, 2022 |
| FLNA-related disorder | 1 | Aug 22, 2017 |
| FLNB-Related Disorder | 1 | Aug 22, 2017 |
| Fabry disease | 3 | Mar 13, 2018 |
| Facioscapulohumeral muscular dystrophy 2 | 1 | Aug 22, 2017 |
| Familial Mediterranean fever | 3 | Apr 20, 2020 |
| Familial adenomatous polyposis 1 | 6 | Feb 9, 2022 |
| Familial adenomatous polyposis 4 | 1 | Mar 13, 2018 |
| Familial amyloid nephropathy with urticaria AND deafness | 1 | Aug 22, 2017 |
| Familial cancer of breast | 4 | Feb 9, 2022 |
| Familial cardiomyopathy | 1 | Aug 22, 2017 |
| Familial cold autoinflammatory syndrome 1 | 1 | Aug 22, 2017 |
| Familial cold autoinflammatory syndrome 2 | 1 | Apr 20, 2020 |
| Familial colorectal cancer | 3 | Feb 9, 2022 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 1 | Apr 20, 2020 |
| Familial exudative vitreoretinopathy | 1 | Aug 22, 2017 |
| Familial hemophagocytic lymphohistiocytosis | 1 | Aug 22, 2017 |
| Familial hypercholesterolemia | 1 | Feb 9, 2022 |
| Familial hypobetalipoproteinemia 1 | 1 | Mar 13, 2018 |
| Familial hypokalemia-hypomagnesemia | 1 | Feb 9, 2022 |
| Familial infantile myasthenia | 1 | Mar 13, 2018 |
| Familial medullary thyroid carcinoma | 1 | Aug 22, 2017 |
| Familial ovarian cancer | 1 | Nov 24, 2021 |
| Familial partial lipodystrophy, Dunnigan type | 1 | Feb 9, 2022 |
| Familial temporal lobe epilepsy 7 | 1 | Mar 13, 2018 |
| Familial thoracic aortic aneurysm and aortic dissection | 5 | Feb 9, 2022 |
| Fanconi anemia | 1 | Aug 22, 2017 |
| Fanconi anemia complementation group A | 2 | Feb 9, 2022 |
| Fanconi anemia complementation group D1 | 2 | Nov 24, 2021 |
| Fanconi anemia complementation group N | 1 | Apr 20, 2020 |
| Fanconi anemia complementation group P | 1 | Feb 9, 2022 |
| Fanconi anemia, complementation group M | 1 | Mar 13, 2018 |
| Farber lipogranulomatosis | 1 | Mar 13, 2018 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | Feb 9, 2022 |
| Fetal akinesia deformation sequence 2 | 1 | Feb 9, 2022 |
| Fetal akinesia deformation sequence 3 | 1 | Feb 9, 2022 |
| Fetal hemoglobin quantitative trait locus 1 | 1 | Mar 13, 2018 |
| Fibrochondrogenesis 1 | 2 | Feb 9, 2022 |
| Fibrochondrogenesis 2 | 3 | Apr 20, 2020 |
| Focal segmental glomerulosclerosis 8 | 1 | Jan 30, 2019 |
| Fragile site 11b | 1 | Apr 20, 2020 |
| Fried syndrome | 1 | Feb 9, 2022 |
| Frontometaphyseal dysplasia 1 | 1 | Aug 22, 2017 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Mar 13, 2018 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Feb 9, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 1 | Feb 9, 2022 |
| Fructose-biphosphatase deficiency | 1 | Aug 22, 2017 |
| Fundus albipunctatus, autosomal recessive | 1 | Jan 30, 2019 |
| G6PD deficiency | 1 | Mar 13, 2018 |
| GABRA6-Related Disorder | 1 | Aug 22, 2017 |
| GABRG2-Related Disorder | 1 | Aug 22, 2017 |
| GATAD2B-Related Disorder | 2 | Jan 30, 2019 |
| GLUT1 deficiency syndrome | 1 | Apr 20, 2020 |
| GNB1-Related Disorder | 1 | Apr 20, 2020 |
| GNE myopathy | 1 | Apr 20, 2020 |
| GRIA3-Related Disorder | 1 | Aug 22, 2017 |
| GRIN1-Related Disorder | 2 | Jan 30, 2019 |
| GRIN2B-Related Disorder | 1 | Jan 30, 2019 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Feb 9, 2022 |
| Gamma-aminobutyric acid transaminase deficiency | 1 | Aug 22, 2017 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 2 | Feb 9, 2022 |
| Gastrointestinal stromal tumor | 1 | Mar 13, 2018 |
| Gaucher disease | 1 | Aug 22, 2017 |
| Gaucher disease perinatal lethal | 1 | Jan 30, 2019 |
| Gaucher disease type I | 1 | Jan 30, 2019 |
| Gaucher disease type II | 1 | Jan 30, 2019 |
| Gaucher disease type III | 1 | Jan 30, 2019 |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 | Jan 30, 2019 |
| Geleophysic dysplasia 3 | 3 | Feb 9, 2022 |
| Generalized epilepsy | 1 | Feb 9, 2022 |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 | Apr 20, 2020 |
| Generalized pustular psoriasis | 1 | Aug 22, 2017 |
| Gillespie syndrome | 1 | Mar 13, 2018 |
| Glaucoma 3A | 1 | Jul 17, 2020 |
| Glomerulopathy with fibronectin deposits 2 | 1 | Mar 13, 2018 |
| Glomuvenous malformation | 1 | Mar 13, 2018 |
| Glucocorticoid resistance | 1 | Feb 9, 2022 |
| Glutaryl-CoA oxidase deficiency | 1 | Feb 9, 2022 |
| Glycogen phosphorylase kinase deficiency | 1 | Apr 20, 2020 |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2 | Apr 20, 2020 |
| Glycogen storage disease due to muscle beta-enolase deficiency | 1 | Aug 22, 2017 |
| Glycogen storage disease type III | 2 | Feb 9, 2022 |
| Glycogen storage disease type X | 1 | Aug 22, 2017 |
| Glycogen storage disease, type II | 2 | Feb 9, 2022 |
| Glycogen storage disease, type IV | 2 | Mar 13, 2018 |
| Glycogen storage disease, type V | 1 | Aug 22, 2017 |
| Glycogen storage disease, type VII | 1 | Mar 13, 2018 |
| Gnathodiaphyseal dysplasia | 3 | Mar 13, 2018 |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | 2 | Mar 13, 2018 |
| Gorlin syndrome | 1 | Feb 9, 2022 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Apr 20, 2020 |
| Guillain-Barre syndrome, familial | 1 | Jan 30, 2019 |
| HBB-Related Disorders | 1 | Feb 9, 2022 |
| HIVEP2-Related Disorder | 1 | Aug 22, 2017 |
| HNSHA due to aldolase A deficiency | 1 | Feb 9, 2022 |
| HPRT1-Related Disorder | 2 | Feb 9, 2022 |
| HSD10 mitochondrial disease | 1 | Feb 9, 2022 |
| HSD17B10-Related Disorder | 1 | Aug 22, 2017 |
| HSPB1-Related Disorder | 1 | Aug 22, 2017 |
| HUWE1-Related Disorder | 2 | Feb 9, 2022 |
| Harel-Yoon syndrome | 1 | Apr 20, 2020 |
| Hb SS disease | 1 | Mar 13, 2018 |
| Hearing loss | 3 | Aug 22, 2017 |
| Hearing loss, autosomal dominant 37 | 1 | Feb 9, 2022 |
| Hearing loss, autosomal recessive 106 | 1 | Jan 30, 2019 |
| Hearing loss, autosomal recessive 94 | 1 | Feb 9, 2022 |
| Heimler syndrome 1 | 1 | Feb 9, 2022 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 | Feb 9, 2022 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 | Feb 9, 2022 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 1 | Mar 13, 2018 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 3 | Feb 9, 2022 |
| Hereditary breast ovarian cancer syndrome | 6 | Feb 9, 2022 |
| Hereditary cancer | 4 | Aug 22, 2017 |
| Hereditary cancer-predisposing syndrome | 1 | Apr 20, 2020 |
| Hereditary diffuse gastric adenocarcinoma | 3 | Feb 9, 2022 |
| Hereditary diffuse leukoencephalopathy with spheroids | 1 | Apr 20, 2020 |
| Hereditary factor XI deficiency disease | 1 | Apr 20, 2020 |
| Hereditary fructosuria | 1 | Mar 13, 2018 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Aug 22, 2017 |
| Hereditary leiomyomatosis and renal cell cancer | 2 | Apr 20, 2020 |
| Hereditary liability to pressure palsies | 2 | Feb 9, 2022 |
| Hereditary motor and sensory neuropathy with optic atrophy | 1 | Feb 9, 2022 |
| Hereditary motor and sensory neuropathy, Okinawa type | 1 | Jan 30, 2019 |
| Hereditary nonpolyposis colon cancer | 2 | Nov 24, 2021 |
| Hereditary nonpolyposis colorectal neoplasms | 1 | Aug 22, 2017 |
| Hereditary pancreatitis | 1 | Aug 22, 2017 |
| Hereditary pheochromocytoma-paraganglioma | 1 | Aug 22, 2017 |
| Hereditary sensory and autonomic neuropathy type 6 | 1 | Feb 9, 2022 |
| Hereditary sensory and autonomic neuropathy type 7 | 2 | Apr 20, 2020 |
| Hereditary spastic paraplegia 11 | 2 | Apr 20, 2020 |
| Hereditary spastic paraplegia 30 | 2 | Apr 20, 2020 |
| Hereditary spastic paraplegia 4 | 4 | Mar 13, 2018 |
| Hereditary spastic paraplegia 43 | 1 | Aug 22, 2017 |
| Hereditary spastic paraplegia 44 | 1 | Aug 22, 2017 |
| Hereditary spastic paraplegia 46 | 1 | Aug 22, 2017 |
| Hereditary spastic paraplegia 48 | 1 | Feb 9, 2022 |
| Hereditary spastic paraplegia 49 | 3 | Apr 20, 2020 |
| Hereditary spastic paraplegia 57 | 1 | Jan 30, 2019 |
| Hereditary spastic paraplegia 5A | 1 | Feb 9, 2022 |
| Hereditary spastic paraplegia 7 | 3 | Mar 13, 2018 |
| Hereditary spastic paraplegia 9A | 1 | Aug 22, 2017 |
| Hereditary spherocytosis | 1 | Nov 24, 2021 |
| Hereditary spherocytosis type 4 | 1 | Mar 13, 2018 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 1 | Feb 9, 2022 |
| Herpes simplex encephalitis, susceptibility to, 1 | 1 | Feb 9, 2022 |
| Heterotopia, periventricular, X-linked dominant | 3 | Jan 30, 2019 |
| Hirschsprung disease, susceptibility to, 1 | 2 | Feb 9, 2022 |
| Hirschsprung disease, susceptibility to, 2 | 1 | Mar 13, 2018 |
| History of neurodevelopmental disorder | 1 | Feb 9, 2022 |
| Hoyeraal-Hreidarsson syndrome | 1 | Feb 9, 2022 |
| Hutchinson-Gilford syndrome | 3 | Feb 9, 2022 |
| Hyper-IgE recurrent infection syndrome 1 | 1 | Feb 9, 2022 |
| Hyperammonemia, type III | 1 | Aug 22, 2017 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Mar 13, 2018 |
| Hypercholesterolemia, familial, 1 | 2 | Mar 13, 2018 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 | Feb 9, 2022 |
| Hypertrophic cardiomyopathy | 4 | Jan 30, 2019 |
| Hypertrophic cardiomyopathy 1 | 2 | Apr 20, 2020 |
| Hypertrophic cardiomyopathy 14 | 1 | Feb 9, 2022 |
| Hypertrophic cardiomyopathy 15 | 1 | Mar 13, 2018 |
| Hypertrophic cardiomyopathy 25 | 1 | Jan 30, 2019 |
| Hypertrophic cardiomyopathy 4 | 3 | Feb 9, 2022 |
| Hypertrophic cardiomyopathy 9 | 8 | Nov 24, 2021 |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 2 | Mar 13, 2018 |
| Hypochondroplasia | 1 | Mar 13, 2018 |
| Hypogonadism with anosmia | 1 | Apr 20, 2020 |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 1 | Feb 9, 2022 |
| Hypomyelinating leukodystrophy 3 | 1 | Mar 13, 2018 |
| Hypomyelinating leukodystrophy 6 | 1 | Apr 20, 2020 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | Mar 13, 2018 |
| Hypophosphatasia | 1 | Mar 13, 2018 |
| Hypophosphatemia | 1 | Jan 30, 2019 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Jan 30, 2019 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 2 | Feb 9, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Feb 9, 2022 |
| Hypotrichosis 6 | 1 | Mar 13, 2018 |
| IGF1R-Related Disorder | 1 | Jan 30, 2019 |
| IL1RAPL1-Related Disorder | 1 | Aug 22, 2017 |
| ISPD-Related Disorder | 1 | Apr 20, 2020 |
| Ichthyosis prematurity syndrome | 1 | Jan 30, 2019 |
| Ichthyosis vulgaris | 2 | Feb 9, 2022 |
| Idiopathic hemiconvulsion-hemiplegia syndrome | 1 | Jan 30, 2019 |
| Imerslund-Grasbeck syndrome | 1 | Aug 22, 2017 |
| Immunodeficiency 31B | 1 | Jan 30, 2019 |
| Immunodeficiency 36 | 1 | Mar 13, 2018 |
| Immunodeficiency, common variable, 2 | 1 | Mar 13, 2018 |
| Infantile convulsions and choreoathetosis | 1 | Apr 20, 2020 |
| Infantile cortical hyperostosis | 2 | Feb 9, 2022 |
| Infantile encephalopathy | 2 | Aug 22, 2017 |
| Infantile epileptic dyskinetic encephalopathy | 1 | Feb 9, 2022 |
| Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 1 | Mar 13, 2018 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 2 | Apr 20, 2020 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 | Feb 9, 2022 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Feb 9, 2022 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Feb 9, 2022 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Feb 9, 2022 |
| Intellectual developmental disorder with seizures and language delay | 1 | Feb 9, 2022 |
| Intellectual disability | 6 | Apr 20, 2020 |
| Intellectual disability, X-linked 1 | 1 | Mar 13, 2018 |
| Intellectual disability, X-linked 102 | 1 | Feb 9, 2022 |
| Intellectual disability, X-linked 9 | 1 | Feb 9, 2022 |
| Intellectual disability, X-linked 97 | 1 | Feb 9, 2022 |
| Intellectual disability, X-linked 99 | 1 | Apr 20, 2020 |
| Intellectual disability, X-linked syndromic, Turner type | 2 | Feb 9, 2022 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Feb 9, 2022 |
| Intellectual disability, autosomal dominant 1 | 1 | Nov 17, 2017 |
| Intellectual disability, autosomal dominant 13 | 2 | Feb 9, 2022 |
| Intellectual disability, autosomal dominant 14 | 1 | Feb 9, 2022 |
| Intellectual disability, autosomal dominant 20 | 3 | Jan 30, 2019 |
| Intellectual disability, autosomal dominant 4 | 1 | Mar 13, 2018 |
| Intellectual disability, autosomal dominant 5 | 1 | Feb 9, 2022 |
| Intellectual disability, autosomal dominant 57 | 1 | Apr 20, 2020 |
| Intellectual disability, autosomal dominant 6 | 1 | Feb 9, 2022 |
| Intellectual disability, autosomal dominant 8 | 1 | Apr 20, 2020 |
| Intellectual disability, autosomal dominant 9 | 2 | Apr 20, 2020 |
| Intellectual disability, autosomal recessive 1 | 1 | Aug 22, 2017 |
| Intellectual disability, autosomal recessive 13 | 1 | Mar 13, 2018 |
| Intellectual disability, autosomal recessive 18 | 1 | Aug 22, 2017 |
| Intellectual disability, autosomal recessive 34 | 1 | Feb 9, 2022 |
| Intellectual disability, autosomal recessive 5 | 1 | Apr 20, 2020 |
| Intellectual disability, autosomal recessive 58 | 2 | Feb 9, 2022 |
| Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | 1 | Jan 30, 2019 |
| Irido-corneo-trabecular dysgenesis | 1 | Jul 17, 2020 |
| Isolated focal cortical dysplasia type II | 1 | Apr 20, 2020 |
| Joubert syndrome 13 | 1 | Feb 9, 2022 |
| Joubert syndrome 23 | 2 | Feb 9, 2022 |
| Junctional epidermolysis bullosa | 1 | Feb 9, 2022 |
| Juvenile myoclonic epilepsy | 2 | Mar 13, 2018 |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1 | Feb 9, 2022 |
| KANK1- Related Disorder | 1 | Mar 13, 2018 |
| KBG syndrome | 3 | Feb 9, 2022 |
| KCN2A-Related Disorder | 1 | Feb 9, 2022 |
| KCND3-Related Disorder | 1 | Feb 9, 2022 |
| KCNQ1-Related Disorders | 1 | Feb 9, 2022 |
| KCNQ2-Related Disorders | 1 | Apr 20, 2020 |
| KDM5B-Related Disorder | 2 | Feb 9, 2022 |
| KMT5B-Related Disorder | 1 | Feb 9, 2022 |
| Kabuki syndrome 1 | 3 | Apr 20, 2020 |
| Keppen-Lubinsky syndrome | 1 | Mar 13, 2018 |
| Kufor-Rakeb syndrome | 2 | Mar 13, 2018 |
| LAMA2-related muscular dystrophy | 3 | Apr 20, 2020 |
| LOX-Related Disorder | 1 | Jan 30, 2019 |
| LOX-related disorders | 1 | Feb 9, 2022 |
| LRP4-Related Disorder | 1 | Apr 20, 2020 |
| LRP5-related primary osteoporosis | 1 | Feb 9, 2022 |
| LTBP2-related Disorder | 1 | Aug 22, 2017 |
| LZTR1-Related Disorder | 1 | Feb 9, 2022 |
| Landau-Kleffner syndrome | 1 | Apr 20, 2020 |
| Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | 2 | Mar 13, 2018 |
| Leber optic atrophy | 4 | Feb 9, 2022 |
| Left ventricular noncompaction | 1 | Apr 20, 2020 |
| Left ventricular noncompaction 10 | 1 | Feb 9, 2022 |
| Leigh syndrome | 4 | Mar 13, 2018 |
| Lennox-Gastaut syndrome | 1 | Apr 20, 2020 |
| Lethal Kniest-like syndrome | 2 | Feb 9, 2022 |
| Lethal multiple pterygium syndrome | 1 | Aug 22, 2017 |
| Leukemia, acute myeloid with eosinophilia | 1 | Nov 24, 2021 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 3 | Mar 13, 2018 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 3 | Apr 20, 2020 |
| Levy-Hollister syndrome | 1 | Mar 13, 2018 |
| Lewy body dementia | 2 | Feb 9, 2022 |
| Lissencephaly | 1 | Apr 20, 2020 |
| Lissencephaly due to LIS1 mutation | 1 | Mar 13, 2018 |
| Lissencephaly due to TUBA1A mutation | 1 | Mar 13, 2018 |
| Loeys-Dietz syndrome | 2 | Aug 22, 2017 |
| Long QT syndrome | 3 | Aug 22, 2017 |
| Long QT syndrome 1 | 1 | Aug 22, 2017 |
| Long QT syndrome 2 | 2 | Apr 20, 2020 |
| Lower motor neuron syndrome with late-adult onset | 1 | Mar 13, 2018 |
| Lymphoma | 1 | Feb 9, 2022 |
| Lynch syndrome | 9 | Feb 9, 2022 |
| MAN1B1-CDG | 1 | Feb 9, 2022 |
| MAPK8IP3-related disorders | 1 | Feb 9, 2022 |
| MAPT-Related Spectrum Disorders | 1 | Feb 9, 2022 |
| MARS-Related Disorder | 2 | Mar 13, 2018 |
| MASS syndrome | 1 | Jan 30, 2019 |
| MATR3-Related Disorder | 1 | Aug 22, 2017 |
| MBD5 associated neurodevelopmental disorder | 1 | Feb 9, 2022 |
| MECP2-Related Disorder | 1 | Apr 20, 2020 |
| MED13L-Related Disorder | 2 | Feb 9, 2022 |
| MEF2C-Related Disorder | 2 | Feb 9, 2022 |
| MEIS2-related disorder | 1 | Aug 22, 2017 |
| MME-related autosomal dominant Charcot Marie Tooth disease type 2 | 1 | Feb 9, 2022 |
| MPDU1-CDG | 1 | Jan 30, 2019 |
| MPI-CDG | 1 | Mar 13, 2018 |
| MSH3-related attenuated familial adenomatous polyposis | 1 | Feb 9, 2022 |
| MSL3-Related Disorder | 1 | Apr 20, 2020 |
| MUTYH-related attenuated familial adenomatous polyposis | 2 | Feb 9, 2022 |
| MYH2-related myopathy | 1 | Mar 13, 2018 |
| MYH7-Related Disorders | 2 | Feb 9, 2022 |
| MYH7-related late-onset scapuloperoneal muscular dystrophy | 1 | Apr 20, 2020 |
| MYH9-related disorder | 1 | Jan 30, 2019 |
| MYO7A-related disorder | 1 | Jan 30, 2019 |
| MYOM1-related disorder | 1 | Aug 22, 2017 |
| Macrocephaly-autism syndrome | 1 | Feb 9, 2022 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2 | Apr 20, 2020 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 2 | Aug 22, 2017 |
| Majeed syndrome | 1 | Mar 13, 2018 |
| Malignant hyperthermia of anesthesia | 1 | Aug 22, 2017 |
| Malignant hyperthermia, susceptibility to, 1 | 4 | Apr 20, 2020 |
| Malignant tumor of breast | 1 | Jan 30, 2019 |
| Mandibuloacral dysplasia with type A lipodystrophy | 1 | Feb 9, 2022 |
| Mannose-binding lectin deficiency | 1 | Aug 22, 2017 |
| Maple syrup urine disease type 1B | 1 | Apr 20, 2020 |
| Marfan syndrome | 5 | Apr 20, 2020 |
| Marshall syndrome | 2 | Feb 9, 2022 |
| Maturity-onset diabetes of the young type 2 | 1 | Apr 20, 2020 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Feb 9, 2022 |
| Megaconial type congenital muscular dystrophy | 1 | Feb 9, 2022 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 1 | Feb 9, 2022 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 1 | Feb 9, 2022 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 | Jan 30, 2019 |
| Meier-Gorlin syndrome 1 | 1 | Aug 22, 2017 |
| Meier-Gorlin syndrome 4 | 1 | Aug 22, 2017 |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 1 | Feb 9, 2022 |
| Melnick-Needles syndrome | 1 | Aug 22, 2017 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 1 | Jan 30, 2019 |
| Merosin deficient congenital muscular dystrophy | 6 | Jan 30, 2019 |
| Metachromatic leukodystrophy | 2 | Apr 20, 2020 |
| Methylcobalamin deficiency type cblE | 1 | Feb 9, 2022 |
| Methylmalonic aciduria and homocystinuria type cblF | 2 | Jan 30, 2019 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Mar 13, 2018 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 2 | Mar 13, 2018 |
| Microcephaly 3, primary, autosomal recessive | 2 | Mar 13, 2018 |
| Microcephaly 9, primary, autosomal recessive | 1 | Mar 13, 2018 |
| Microcephaly, normal intelligence and immunodeficiency | 1 | Apr 20, 2020 |
| Microcephaly, seizures, and developmental delay | 1 | Apr 20, 2020 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Feb 9, 2022 |
| Migraine, familial hemiplegic, 1 | 1 | Jan 30, 2019 |
| Mitochondrial DNA depletion syndrome 11 | 1 | Mar 13, 2018 |
| Mitochondrial DNA depletion syndrome 3 | 1 | Jan 30, 2019 |
| Mitochondrial DNA depletion syndrome 4b | 2 | Mar 13, 2018 |
| Mitochondrial DNA depletion syndrome 9 | 1 | Apr 20, 2020 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 | Feb 9, 2022 |
| Mitochondrial DNA depletion syndrome, hepatocerebral form | 2 | Apr 20, 2020 |
| Mitochondrial DNA-Associated Leigh Syndrome and NARP | 3 | Feb 9, 2022 |
| Mitochondrial DNA-related disorder | 3 | Aug 22, 2017 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 1 | Apr 20, 2020 |
| Mitochondrial complex I deficiency | 4 | Mar 13, 2018 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Feb 9, 2022 |
| Mitochondrial disease | 1 | Nov 24, 2021 |
| Mitochondrial-DNA disorder | 1 | Mar 13, 2018 |
| Miyoshi muscular dystrophy 1 | 1 | Jan 30, 2019 |
| Miyoshi muscular dystrophy 3 | 3 | Mar 13, 2018 |
| Miyoshi myopathy | 1 | Nov 24, 2021 |
| Monosomy 13q34 | 1 | Feb 9, 2022 |
| Mosaic supernumerary isodicentric chromosome 10 | 1 | Feb 9, 2022 |
| Moyamoya disease | 1 | Feb 9, 2022 |
| Moyamoya disease 5 | 1 | Feb 9, 2022 |
| Mucopolysaccharidosis type 1 | 1 | Apr 20, 2020 |
| Mucopolysaccharidosis, MPS-II | 1 | Feb 9, 2022 |
| Mucopolysaccharidosis, MPS-IV-B | 1 | Mar 13, 2018 |
| Multiminicore myopathy | 1 | Aug 22, 2017 |
| Multiple endocrine neoplasia, type 1 | 2 | Apr 20, 2020 |
| Multiple endocrine neoplasia, type 2a | 3 | Feb 9, 2022 |
| Multiple fibrofolliculomas | 3 | Feb 9, 2022 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Feb 9, 2022 |
| Muscle AMP deaminase deficiency | 2 | Feb 9, 2022 |
| Muscular dystrophy | 2 | Aug 22, 2017 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 2 | Jan 30, 2019 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 | Feb 9, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 1 | Feb 9, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 2 | Jan 30, 2019 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 | Feb 9, 2022 |
| Muscular dystrophy-dystroglycanopathy type B6 | 1 | Feb 9, 2022 |
| Mycobacterium tuberculosis, susceptibility to | 1 | Mar 13, 2018 |
| Myeloperoxidase deficiency | 2 | Aug 22, 2017 |
| Myoclonic-atonic epilepsy | 1 | Aug 22, 2017 |
| Myofibrillar myopathy 1 | 1 | Feb 9, 2022 |
| Myofibrillar myopathy 5 | 3 | Feb 9, 2022 |
| Myopathy, centronuclear, 2 | 1 | Mar 13, 2018 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 10 | Nov 24, 2021 |
| Myosin storage myopathy | 1 | Apr 20, 2020 |
| NACC1-Related Disorder | 1 | Feb 9, 2022 |
| NARP syndrome | 1 | Mar 13, 2018 |
| NFIA-related disorders | 1 | Jan 30, 2019 |
| NGF-Related Disorder | 1 | Feb 9, 2022 |
| NOTCH1-Related Disorders | 1 | Mar 13, 2018 |
| NRXN-Related Disorder | 1 | Aug 22, 2017 |
| NRXN1-related disorder | 1 | Feb 9, 2022 |
| NT5E-Related Disorder | 2 | Feb 9, 2022 |
| Nail-patella syndrome | 3 | Feb 9, 2022 |
| Navajo neurohepatopathy | 1 | Feb 9, 2022 |
| Nebulin-related early-onset distal myopathy | 2 | Feb 9, 2022 |
| Nemaline myopathy | 1 | Aug 22, 2017 |
| Nemaline myopathy 2 | 4 | Feb 9, 2022 |
| Nephrogenic syndrome of inappropriate antidiuresis | 1 | Aug 22, 2017 |
| Netherton syndrome | 1 | Mar 13, 2018 |
| Neurodegeneration with brain iron accumulation | 1 | Jan 30, 2019 |
| Neurodegeneration with brain iron accumulation 4 | 1 | Aug 22, 2017 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Jan 30, 2019 |
| Neurodegeneration with brain iron accumulation 6 | 1 | Feb 9, 2022 |
| Neurodegeneration with brain iron accumulation 8 | 1 | Jan 30, 2019 |
| Neurodevelopmental and congenital anomalies | 1 | Jan 30, 2019 |
| Neurodevelopmental disorder | 1 | Nov 24, 2021 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Apr 20, 2020 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Apr 20, 2020 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 1 | Apr 20, 2020 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 1 | Apr 20, 2020 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 2 | Feb 9, 2022 |
| Neurofibromatosis, type 1 | 7 | Feb 9, 2022 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Jan 30, 2019 |
| Neuronal ceroid lipofuscinosis 2 | 3 | Jul 17, 2020 |
| Neuronal ceroid lipofuscinosis 5 | 1 | Apr 20, 2020 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Aug 22, 2017 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | Aug 22, 2017 |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 | Aug 22, 2017 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 2 | Feb 9, 2022 |
| Neuropathy, hereditary sensory, type 2C | 2 | Apr 20, 2020 |
| Nicolaides-Baraitser syndrome | 1 | Apr 20, 2020 |
| Niemann-Pick disease, type C1 | 1 | Aug 22, 2017 |
| Niemann-Pick disease, type C2 | 1 | Mar 13, 2018 |
| Nijmegen breakage syndrome-like disorder | 1 | Feb 9, 2022 |
| Non-syndromic intellectual disability | 1 | Mar 13, 2018 |
| Nonprogressive cerebellar atxia with intellectual disability | 1 | Apr 20, 2020 |
| Nonsyndromic Hearing Loss, Recessive | 1 | Nov 24, 2021 |
| Noonan syndrome | 1 | Mar 13, 2018 |
| Noonan syndrome 10 | 1 | Apr 20, 2020 |
| Noonan syndrome 6 | 1 | Mar 13, 2018 |
| Norman-Roberts syndrome | 1 | Mar 13, 2018 |
| Oligodontia-cancer predisposition syndrome | 1 | Feb 9, 2022 |
| Optic atrophy | 1 | Mar 13, 2018 |
| Optic atrophy 3 | 2 | Feb 9, 2022 |
| Osteocraniostenosis | 1 | Apr 20, 2020 |
| Osteogenesis imperfecta | 3 | Feb 9, 2022 |
| Osteogenesis imperfecta type 7 | 1 | Apr 20, 2020 |
| Osteogenesis imperfecta type 8 | 1 | Apr 20, 2020 |
| Osteogenesis imperfecta type I | 3 | Apr 20, 2020 |
| Osteogenesis imperfecta, recessive perinatal lethal | 1 | Mar 13, 2018 |
| Osteoporosis with pseudoglioma | 1 | Feb 9, 2022 |
| Oto-palato-digital syndrome, type I | 1 | Aug 22, 2017 |
| Oto-palato-digital syndrome, type II | 1 | Aug 22, 2017 |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 3 | Apr 20, 2020 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 3 | Apr 20, 2020 |
| Ovarian dysgenesis 1 | 2 | Feb 9, 2022 |
| Ovarian hyperstimulation syndrome | 2 | Feb 9, 2022 |
| PALB2-Related Disorders | 1 | Feb 9, 2022 |
| PDX1-Related Disorder | 1 | Feb 9, 2022 |
| PGK1-Related Disorder | 1 | Feb 9, 2022 |
| PGM1-CDG | 1 | Aug 22, 2017 |
| PHIP-Related Disorder | 1 | Jan 30, 2019 |
| PHIP-Related disorders | 1 | Jan 30, 2019 |
| PIGT-related disorder | 3 | Feb 9, 2022 |
| PINK1-Related Parkinsonism | 1 | Aug 22, 2017 |
| PLOD3-Related Disorder | 1 | Apr 20, 2020 |
| POGZ-Related Disorder | 1 | Feb 9, 2022 |
| POLG- Related Disorder | 1 | Mar 13, 2018 |
| POLG-related disorders | 5 | Jan 30, 2019 |
| POLR3B-Related Disorder | 1 | Apr 20, 2020 |
| POMGNT1-Related Disorders | 1 | Feb 9, 2022 |
| PPP2R1A-related disorder | 1 | Jan 30, 2019 |
| PPP2R2B-Related Disorder | 1 | Apr 20, 2020 |
| PPP2R5D-Related Disorder | 1 | Feb 9, 2022 |
| PTCH2-related disease | 1 | Feb 9, 2022 |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | 1 | Apr 20, 2020 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Apr 20, 2020 |
| Pancreatitis | 1 | Jan 30, 2019 |
| Paragangliomas 4 | 1 | Mar 13, 2018 |
| Parkinson disease, late-onset | 1 | Jan 30, 2019 |
| Paroxysmal extreme pain disorder | 2 | Feb 9, 2022 |
| Partial androgen insensitivity syndrome | 1 | Apr 20, 2020 |
| Pendred syndrome | 1 | Feb 9, 2022 |
| Periodic fever syndrome | 1 | Aug 22, 2017 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 | Apr 20, 2020 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Aug 22, 2017 |
| Permanent neonatal diabetes mellitus | 1 | Apr 20, 2020 |
| Peroxisome biogenesis disorder | 1 | Mar 13, 2018 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 | Feb 9, 2022 |
| Peroxisome biogenesis disorder 1B | 2 | Feb 9, 2022 |
| Peroxisome biogenesis disorder 8A (Zellweger) | 1 | Jan 30, 2019 |
| Peroxisome biogenesis disorder 8B | 1 | Jan 30, 2019 |
| Perrault syndrome 1 | 1 | Aug 22, 2017 |
| Perrault syndrome 3 | 1 | Feb 9, 2022 |
| Pettigrew syndrome | 1 | Feb 9, 2022 |
| Peutz-Jeghers syndrome | 1 | Aug 22, 2017 |
| Phenylketonuria | 2 | Mar 13, 2018 |
| Pheochromocytoma | 1 | Mar 13, 2018 |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 1 | Aug 22, 2017 |
| Pigmentary retinal dystrophy | 1 | Feb 9, 2022 |
| Pigmented nodular adrenocortical disease, primary, 1 | 1 | Feb 9, 2022 |
| Pitt-Hopkins-like syndrome 2 | 1 | Feb 9, 2022 |
| Pituitary hormone deficiency, combined, 1 | 1 | Mar 13, 2018 |
| Plasma fibronectin deficiency | 1 | Mar 13, 2018 |
| Polycystic kidney disease 2 | 1 | Jan 30, 2019 |
| Polycystic kidney disease, adult type | 2 | Jan 30, 2019 |
| Polyglandular autoimmune syndrome, type 1 | 1 | Apr 20, 2020 |
| Polymerase proofreading associated polyposis | 1 | Apr 20, 2020 |
| Polymicrogyria | 1 | Apr 20, 2020 |
| Pontocerebellar hypoplasia type 1A | 1 | Mar 13, 2018 |
| Pontocerebellar hypoplasia type 2 | 1 | Feb 9, 2022 |
| Pontocerebellar hypoplasia type 4 | 1 | Feb 9, 2022 |
| Pontocerebellar hypoplasia, type 1C | 1 | Mar 13, 2018 |
| Primary ciliary dyskinesia 11 | 1 | Aug 22, 2017 |
| Primary ciliary dyskinesia 34 | 1 | Mar 13, 2018 |
| Primary dilated cardiomyopathy | 4 | Apr 20, 2020 |
| Primary erythromelalgia | 2 | Feb 9, 2022 |
| Primary familial hypertrophic cardiomyopathy | 1 | Feb 9, 2022 |
| Primary hyperoxaluria, type II | 1 | Mar 13, 2018 |
| Primary hypomagnesemia | 2 | Feb 9, 2022 |
| Primary open angle glaucoma | 1 | Feb 9, 2022 |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 1 | Feb 9, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 2 | Mar 13, 2018 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 1 | Apr 20, 2020 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 | Mar 13, 2018 |
| Progressive sclerosing poliodystrophy | 2 | Mar 13, 2018 |
| Propionic acidemia | 1 | Mar 13, 2018 |
| Prostate cancer susceptibility | 1 | Feb 9, 2022 |
| Pseudo von Willebrand disease | 1 | Mar 13, 2018 |
| Pseudoxanthoma elasticum | 3 | Feb 9, 2022 |
| Pyridoxal phosphate-responsive seizures | 1 | Feb 9, 2022 |
| Pyruvate carboxylase deficiency | 2 | Feb 9, 2022 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Nov 17, 2017 |
| Qualitative or quantitative defects of dysferlin | 1 | Aug 22, 2017 |
| Qualitative or quantitative defects of dystrophin | 1 | Feb 9, 2022 |
| RAB39B-Related Disorder | 1 | Feb 9, 2022 |
| RASopathy | 2 | Aug 22, 2017 |
| RPE65-Related Disorders | 2 | Apr 20, 2020 |
| RRM2B-related mitochondrial disease | 1 | Feb 9, 2022 |
| RTEL1-related Disorders | 1 | Mar 13, 2018 |
| RYR1-Related Disorder | 3 | Aug 22, 2017 |
| RYR1-Related Disorders | 3 | Feb 9, 2022 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Mar 13, 2018 |
| Rapadilino syndrome | 1 | Feb 9, 2022 |
| Refractory anemia with ringed sideroblasts (clinical) | 1 | Aug 22, 2017 |
| Renal carnitine transport defect | 1 | Mar 13, 2018 |
| Renal coloboma syndrome | 1 | Mar 13, 2018 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 1 | Mar 13, 2018 |
| Renier-Gabreels-Jasper syndrome | 1 | Apr 20, 2020 |
| Retinitis pigmentosa | 3 | Feb 9, 2022 |
| Retinitis pigmentosa 31 | 1 | Jan 30, 2019 |
| Retinitis pigmentosa 38 | 1 | Feb 9, 2022 |
| Retinitis pigmentosa 40 | 2 | Jan 30, 2019 |
| Retinitis pigmentosa 76 | 1 | Feb 9, 2022 |
| Retinoblastoma | 2 | Feb 9, 2022 |
| Rett syndrome | 2 | Feb 9, 2022 |
| Rett syndrome, congenital variant | 1 | Apr 20, 2020 |
| Revesz syndrome | 1 | Feb 9, 2022 |
| Rh-null, regulator type | 1 | Apr 20, 2020 |
| Rothmund-Thomson syndrome type 2 | 1 | Feb 9, 2022 |
| Roussy-Lévy syndrome | 1 | Jan 30, 2019 |
| Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | 2 | Apr 20, 2020 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Aug 22, 2017 |
| SAMD9-Related Disorder | 1 | Feb 9, 2022 |
| SATB2-Related Disorder | 1 | Mar 13, 2018 |
| SCN10A-Related Disorder | 1 | Aug 22, 2017 |
| SCN1B-Related Disorder | 1 | Mar 13, 2018 |
| SCN2A-related disorder | 4 | Feb 9, 2022 |
| SCN3A- Related Disorder | 1 | Aug 22, 2017 |
| SCN4A-related disorder | 1 | Aug 22, 2017 |
| SCN5A-related disorder | 2 | Jan 30, 2019 |
| SCN8A-related disorder | 1 | Aug 22, 2017 |
| SETBP1-Related Disorder | 1 | Aug 22, 2017 |
| SHANK2-related disorder | 1 | Feb 9, 2022 |
| SHANK3-Related Disorder | 2 | Jan 30, 2019 |
| SHORT syndrome | 2 | Feb 9, 2022 |
| SLC26A4-Related Disorders | 1 | Feb 9, 2022 |
| SLC6A1-Related Disorder | 2 | Jan 30, 2019 |
| SLC6A2-related disorder | 1 | Aug 22, 2017 |
| SMAD3-Related Disorder | 1 | Jan 30, 2019 |
| SMS-Related Disorder | 1 | Aug 22, 2017 |
| SOX2-Related Disorder | 1 | Apr 20, 2020 |
| SPATA5-Related Disorder | 2 | Feb 9, 2022 |
| SQSTM1-related disorder | 1 | Aug 22, 2017 |
| STAG1-Related Disorders | 1 | Mar 13, 2018 |
| STAT1-Related Disorder | 1 | Aug 22, 2017 |
| STRA6-Related Disorder | 1 | Aug 22, 2017 |
| STT3B-CDG | 1 | Mar 13, 2018 |
| SUDDEN INFANT DEATH SYNDROME | 1 | Aug 22, 2017 |
| Scapuloperoneal spinal muscular atrophy | 1 | Feb 9, 2022 |
| Schaaf-Yang syndrome | 1 | Apr 20, 2020 |
| Schizophrenia | 2 | Feb 9, 2022 |
| Schuurs-Hoeijmakers syndrome | 1 | Jan 30, 2019 |
| Schwartz-Jampel syndrome type 1 | 2 | Feb 9, 2022 |
| Seckel syndrome | 2 | Feb 9, 2022 |
| Seckel syndrome 5 | 1 | Mar 13, 2018 |
| Seizure | 1 | Apr 20, 2020 |
| Seizures, benign familial infantile, 2 | 1 | Apr 20, 2020 |
| Seizures, benign familial infantile, 3 | 2 | Apr 20, 2020 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2 | Mar 13, 2018 |
| Severe combined immunodeficiency disease | 1 | Aug 22, 2017 |
| Severe early-childhood-onset retinal dystrophy | 2 | Aug 22, 2017 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 3 | Apr 20, 2020 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 | Aug 22, 2017 |
| Severe myoclonic epilepsy in infancy | 2 | Nov 18, 2020 |
| Short QT syndrome type 1 | 1 | Feb 9, 2022 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 2 | Mar 13, 2018 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 | Aug 22, 2017 |
| Short-rib thoracic dysplasia 14 with polydactyly | 2 | Feb 9, 2022 |
| Sick sinus syndrome | 1 | Aug 22, 2017 |
| Singleton-Merten syndrome 1 | 1 | Apr 20, 2020 |
| Sjögren-Larsson syndrome | 2 | Feb 9, 2022 |
| Small cell carcinoma of the ovary, hypercalcemic type | 1 | Feb 9, 2022 |
| Smith-Lemli-Opitz syndrome | 2 | Feb 9, 2022 |
| Smith-Magenis syndrome | 1 | Apr 20, 2020 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity; | 1 | Aug 22, 2017 |
| Spherocytosis | 1 | Nov 24, 2021 |
| Spinal muscular atrophy | 1 | Aug 22, 2017 |
| Spinal muscular atrophy with lower extremity predominance | 1 | Feb 9, 2022 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 | Mar 13, 2018 |
| Spinocerebellar ataxia 44 | 1 | Feb 9, 2022 |
| Spinocerebellar ataxia 47 | 1 | Apr 20, 2020 |
| Spinocerebellar ataxia type 15/16 | 1 | Mar 13, 2018 |
| Spinocerebellar ataxia type 26 | 1 | Aug 22, 2017 |
| Spinocerebellar ataxia type 29 | 1 | Mar 13, 2018 |
| Spinocerebellar ataxia type 42 | 1 | Apr 20, 2020 |
| Spinocerebellar ataxia type 5 | 2 | Mar 13, 2018 |
| Spinocerebellar ataxia type 6 | 1 | Jan 30, 2019 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Feb 9, 2022 |
| Spongy degeneration of central nervous system | 1 | Feb 9, 2022 |
| Stankiewicz-Isidor syndrome | 1 | Apr 20, 2020 |
| Stargardt disease | 5 | Apr 20, 2020 |
| Sterol carrier protein 2 deficiency | 1 | Mar 13, 2018 |
| Stickler syndrome type 2 | 2 | Feb 9, 2022 |
| Stickler syndrome, type 5 | 1 | Aug 22, 2017 |
| Succinate-semialdehyde dehydrogenase deficiency | 3 | Feb 9, 2022 |
| Supravalvar aortic stenosis | 3 | Feb 9, 2022 |
| Susceptibility to severe cutaneous adverse reaction | 1 | Aug 22, 2017 |
| Syndromic X-linked intellectual disability 94 | 1 | Feb 9, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 | Apr 20, 2020 |
| Syndromic X-linked intellectual disability Lubs type | 1 | Feb 9, 2022 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Aug 22, 2017 |
| TANGO2-Related disorder | 1 | Aug 22, 2017 |
| TBL1XR1-Related Disorder | 3 | Feb 9, 2022 |
| TCF12-related craniosynostosis | 1 | Jan 30, 2019 |
| TERT-associated disorder | 1 | Aug 22, 2017 |
| TLK2-Related Disorder | 1 | Jan 30, 2019 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Feb 9, 2022 |
| TRAF7-Related Disorder | 1 | Apr 20, 2020 |
| TRPM3 related disorder | 1 | Feb 9, 2022 |
| TRPV4-related bone disorder | 1 | Feb 9, 2022 |
| TRRAP-Related Disorder | 2 | Feb 9, 2022 |
| TSC2-Related Disorder | 1 | Aug 22, 2017 |
| TTN-Related Disorders | 4 | Apr 20, 2020 |
| TTN-Related disorder | 1 | Aug 22, 2017 |
| Tall stature-intellectual disability-facial dysmorphism syndrome | 3 | Apr 20, 2020 |
| Thiamine-responsive megaloblastic anemia | 1 | Aug 22, 2017 |
| Thoracic aortic dissection | 1 | Aug 22, 2017 |
| Thrombocythemia 3 | 1 | Mar 13, 2018 |
| Tibial muscular dystrophy | 9 | Nov 24, 2021 |
| Torsion dystonia 4 | 1 | Apr 20, 2020 |
| Transketolase deficiency | 1 | Mar 13, 2018 |
| Treacher-Collins syndrome 1 | 1 | Mar 13, 2018 |
| Trichorhinophalangeal syndrome, type III | 1 | Feb 9, 2022 |
| Tuberous sclerosis 1 | 1 | Jan 30, 2019 |
| Tuberous sclerosis syndrome | 1 | Aug 22, 2017 |
| Turcot syndrome | 3 | Apr 20, 2020 |
| Type 2 collagenopathy | 1 | Feb 9, 2022 |
| Type 2 diabetes mellitus | 2 | Apr 20, 2020 |
| Tyrosinase-positive oculocutaneous albinism | 2 | Mar 13, 2018 |
| UBTF-Related Disorder | 1 | Jan 30, 2019 |
| UNC80-Related Disorder | 2 | Aug 22, 2017 |
| UPF3B-associated intellectual disability | 1 | Nov 24, 2021 |
| USH2A-Related Disorders | 6 | Feb 9, 2022 |
| USP9X related disorders | 1 | Feb 9, 2022 |
| Ullrich congenital muscular dystrophy 1 | 4 | Feb 9, 2022 |
| Ullrich congenital muscular dystrophy 2 | 3 | Feb 9, 2022 |
| Undetermined early-onset epileptic encephalopathy | 1 | Apr 20, 2020 |
| Usher syndrome | 2 | Feb 9, 2022 |
| Usher syndrome type 1 | 2 | Apr 20, 2020 |
| Usher syndrome type 1D | 2 | Jan 30, 2019 |
| Usher syndrome type 3A | 1 | Feb 9, 2022 |
| Van Buchem disease type 2 | 1 | Feb 9, 2022 |
| Van Maldergem syndrome 1 | 1 | Feb 9, 2022 |
| Van Maldergem syndrome 2 | 1 | Feb 9, 2022 |
| Vanishing white matter disease | 2 | Jan 30, 2019 |
| Visceral heterotaxy 5, autosomal | 1 | Mar 13, 2018 |
| Vitamin B12-responsive methylmalonic acidemia type cblA | 1 | Feb 9, 2022 |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 | 1 | Feb 9, 2022 |
| Vitelliform macular dystrophy 1 | 1 | Aug 22, 2017 |
| Von Hippel-Lindau syndrome | 1 | Feb 9, 2022 |
| WDR81-Related Disorder | 1 | Feb 9, 2022 |
| WFS1-Related Spectrum Disorders | 2 | Feb 9, 2022 |
| Waardenburg syndrome type 4A | 1 | Mar 13, 2018 |
| Warsaw breakage syndrome | 2 | Mar 13, 2018 |
| Weill-Marchesani syndrome | 1 | Jan 30, 2019 |
| Werner syndrome | 1 | Apr 20, 2020 |
| Wieacker-Wolff syndrome | 1 | Mar 13, 2018 |
| Williams syndrome | 2 | Feb 9, 2022 |
| Wilson disease | 7 | Feb 9, 2022 |
| Wolfram syndrome | 2 | Feb 9, 2022 |
| Wolfram syndrome 1 | 3 | Mar 13, 2018 |
| Wolfram-like syndrome | 5 | Feb 9, 2022 |
| X-linked Alport syndrome | 1 | Jan 30, 2019 |
| X-linked chondrodysplasia punctata 1 | 1 | Feb 9, 2022 |
| X-linked dystonia-parkinsonism | 1 | Feb 9, 2022 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Feb 9, 2022 |
| X-linked intellectual disability syndrome | 1 | Aug 22, 2017 |
| X-linked intellectual disability, Cantagrel type | 1 | Jan 30, 2019 |
| X-linked intellectual disability-hypotonic face syndrome | 1 | Aug 22, 2017 |
| X-linked myopathy with postural muscle atrophy | 1 | Apr 20, 2020 |
| ZTTK syndrome | 1 | Feb 9, 2022 |
| alpha Thalassemia | 1 | Apr 20, 2020 |
| beta Thalassemia | 1 | Mar 13, 2018 |
| mtDNA-related disorders | 1 | Aug 22, 2017 |
| not provided | 848 | Feb 9, 2022 |
