| 2-aminoadipic 2-oxoadipic aciduria | 4 | Apr 29, 2019 |
| 3-Methylglutaconic aciduria | 1 | Aug 7, 2018 |
| 3-Methylglutaconic aciduria type 2 | 1 | May 3, 2020 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2 | Apr 8, 2019 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 | May 3, 2020 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 3 | Dec 3, 2017 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | May 3, 2020 |
| 3-methylglutaconic aciduria type 9 | 1 | May 3, 2020 |
| 3-methylglutaconic aciduria, type VIIB | 1 | May 3, 2020 |
| 3M syndrome 1 | 1 | Aug 7, 2018 |
| 3MC syndrome 2 | 1 | Apr 29, 2019 |
| 5-Oxoprolinase deficiency | 2 | Apr 8, 2019 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Dec 18, 2017 |
| ABCA4-related disorder | 2 | Apr 8, 2019 |
| AGK-related disorder | 1 | Dec 18, 2017 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 3 | Apr 29, 2019 |
| AICA-ribosiduria | 2 | Apr 29, 2019 |
| ALG1-congenital disorder of glycosylation | 1 | Mar 5, 2018 |
| ALG12-congenital disorder of glycosylation | 1 | Mar 5, 2018 |
| ALG2-congenital disorder of glycosylation | 2 | May 3, 2020 |
| ALG3-congenital disorder of glycosylation | 2 | Dec 10, 2023 |
| ARMC9-related Joubert syndrome | 1 | Mar 5, 2018 |
| ATR-X-related syndrome | 1 | Aug 7, 2018 |
| Abnormality of the eye | 1 | Jun 19, 2017 |
| Acetyl-CoA acetyltransferase-2 deficiency | 1 | Mar 5, 2018 |
| Achromatopsia 4 | 1 | May 3, 2020 |
| Acrocallosal syndrome | 1 | Aug 7, 2018 |
| Acrodysostosis 2 with or without hormone resistance | 1 | Aug 7, 2018 |
| Acromelic frontonasal dysostosis | 1 | Mar 5, 2018 |
| Acromesomelic dysplasia 1, Maroteaux type | 1 | Apr 8, 2019 |
| Acromicric dysplasia | 1 | Mar 5, 2018 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 | Mar 5, 2018 |
| Acute intermittent porphyria | 1 | Apr 8, 2019 |
| Acute lymphoid leukemia | 1 | Aug 7, 2018 |
| Acyl-CoA dehydrogenase 9 deficiency | 2 | May 3, 2020 |
| Adams-Oliver syndrome 1 | 1 | Apr 29, 2019 |
| Adams-Oliver syndrome 2 | 1 | Dec 18, 2017 |
| Adenosine kinase deficiency | 1 | May 3, 2020 |
| Adenylosuccinate lyase deficiency | 1 | Apr 8, 2019 |
| Adrenoleukodystrophy | 1 | Apr 8, 2019 |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Apr 29, 2019 |
| Age related macular degeneration 1 | 1 | May 3, 2020 |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 | Dec 18, 2017 |
| Agnathia-otocephaly complex | 1 | Aug 7, 2018 |
| Aicardi-Goutieres syndrome 1 | 3 | May 3, 2020 |
| Aicardi-Goutieres syndrome 4 | 2 | Mar 5, 2018 |
| Aicardi-Goutieres syndrome 7 | 5 | Apr 29, 2019 |
| Alagille syndrome due to a JAG1 point mutation | 3 | May 3, 2020 |
| Alagille syndrome, ATP8B1 related | 1 | Apr 29, 2019 |
| Aland island eye disease | 1 | Aug 7, 2018 |
| Alcohol sensitivity, acute | 1 | Aug 7, 2018 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 2 | Apr 8, 2019 |
| Alexander disease | 1 | Mar 5, 2018 |
| Alkaline ceramidase 3 deficiency | 1 | Apr 8, 2019 |
| Alkaptonuria | 1 | Jun 19, 2017 |
| Alkuraya-Kucinskas syndrome | 1 | Dec 18, 2017 |
| Allan-Herndon-Dudley syndrome | 3 | May 3, 2020 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Aug 7, 2018 |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 | May 3, 2020 |
| Alstrom syndrome | 3 | Aug 7, 2018 |
| Amelocerebrohypohidrotic syndrome | 1 | Dec 3, 2017 |
| Amelogenesis imperfecta type 1G | 1 | Aug 7, 2018 |
| Aminoacylase 1 deficiency | 1 | Dec 3, 2017 |
| Amyloidosis, hereditary systemic 1 | 1 | Mar 5, 2018 |
| Amyotrophic lateral sclerosis | 2 | May 3, 2020 |
| Amyotrophic lateral sclerosis type 11 | 1 | Mar 5, 2018 |
| Amyotrophic lateral sclerosis type 21 | 1 | Apr 29, 2019 |
| Amyotrophic lateral sclerosis type 4 | 2 | Apr 29, 2019 |
| Andersen Tawil syndrome | 1 | Apr 29, 2019 |
| Androgen insensitivity, partial, with breast cancer | 1 | Aug 7, 2018 |
| Androgen resistance syndrome | 5 | May 3, 2020 |
| Anti-SEMA4D Monoclonal Antibody VX15/2503 | 1 | Aug 7, 2018 |
| Arginase deficiency | 1 | May 3, 2020 |
| Arginine:glycine amidinotransferase deficiency | 1 | Mar 5, 2018 |
| Argininosuccinate lyase deficiency | 1 | May 9, 2016 |
| Arthrogryposis, distal, type 1A | 4 | Apr 8, 2019 |
| Arthrogryposis, distal, with impaired proprioception and touch | 3 | May 3, 2020 |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 1 | Aug 7, 2018 |
| Aspartylglucosaminuria | 2 | Apr 29, 2019 |
| Asphyxiating thoracic dystrophy 1 | 2 | Apr 8, 2019 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 3 | May 3, 2020 |
| Ataxia - oculomotor apraxia type 4 | 1 | Aug 7, 2018 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 | Apr 8, 2019 |
| Ataxia-telangiectasia syndrome | 2 | Apr 8, 2019 |
| Atelosteogenesis type II | 1 | May 9, 2016 |
| Atrial fibrillation, familial, 10 | 1 | Aug 7, 2018 |
| Auriculocondylar syndrome 1 | 1 | Mar 5, 2018 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | May 3, 2020 |
| Autoimmune lymphoproliferative syndrome type 1 | 2 | Mar 5, 2018 |
| Autoimmune lymphoproliferative syndrome, type 1b | 1 | Mar 5, 2018 |
| Autosomal dominant auditory neuropathy 1 | 2 | May 3, 2020 |
| Autosomal dominant centronuclear myopathy | 2 | May 3, 2020 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 | Apr 8, 2019 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 3 | Apr 29, 2019 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Dec 3, 2017 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 3 | Apr 29, 2019 |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 1 | May 3, 2020 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Apr 8, 2019 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2 | May 3, 2020 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 | Mar 5, 2018 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Mar 5, 2018 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Dec 18, 2017 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Dec 18, 2017 |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 | May 3, 2020 |
| Autosomal dominant nonsyndromic hearing loss 4A | 3 | Apr 8, 2019 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Aug 7, 2018 |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 | Aug 7, 2018 |
| Autosomal dominant nonsyndromic hearing loss 70 | 1 | Dec 3, 2017 |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | Dec 18, 2017 |
| Autosomal dominant sensory ataxia 1 | 1 | Apr 29, 2019 |
| Autosomal dominant slowed nerve conduction velocity | 1 | Apr 8, 2019 |
| Autosomal recessive agammaglobulinemia 1 | 1 | Aug 7, 2018 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 | May 3, 2020 |
| Autosomal recessive ataxia, Beauce type | 14 | Apr 29, 2019 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 | Apr 8, 2019 |
| Autosomal recessive congenital ichthyosis 1 | 2 | Apr 29, 2019 |
| Autosomal recessive congenital ichthyosis 10 | 1 | Jun 19, 2017 |
| Autosomal recessive congenital ichthyosis 2 | 2 | May 3, 2020 |
| Autosomal recessive distal renal tubular acidosis | 2 | Apr 8, 2019 |
| Autosomal recessive hypophosphatemic bone disease | 1 | May 3, 2020 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 3 | Apr 29, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | May 3, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 2 | Mar 5, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 1 | May 3, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Mar 5, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 8 | Apr 8, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Mar 5, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 | Aug 7, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Mar 5, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 | Aug 7, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 | May 3, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 2 | Mar 5, 2018 |
| Autosomal recessive myogenic arthrogryposis multiplex congenita | 1 | Apr 8, 2019 |
| Autosomal recessive nonsyndromic hearing loss 103 | 2 | Aug 7, 2018 |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 | Sep 20, 2014 |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 | Mar 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 | Aug 7, 2018 |
| Autosomal recessive nonsyndromic hearing loss 22 | 2 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 23 | 2 | Dec 30, 2023 |
| Autosomal recessive nonsyndromic hearing loss 28 | 4 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 3 | 3 | Dec 18, 2017 |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 | Aug 7, 2018 |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 | May 3, 2020 |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 | Apr 8, 2019 |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 | Aug 7, 2018 |
| Autosomal recessive nonsyndromic hearing loss 53 | 1 | Apr 8, 2019 |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 | Aug 7, 2018 |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 | Aug 7, 2018 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Apr 8, 2019 |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 | Aug 7, 2018 |
| Autosomal recessive nonsyndromic hearing loss 9 | 3 | Apr 8, 2019 |
| Autosomal recessive osteopetrosis 1 | 3 | Apr 8, 2019 |
| Autosomal recessive sideroblastic anemia | 1 | Apr 8, 2019 |
| Autosomal recessive spastic paraplegia type 78 | 1 | Apr 8, 2019 |
| Autosomal recessive spinocerebellar ataxia 15 | 1 | Mar 5, 2018 |
| Autosomal recessive spinocerebellar ataxia 20 | 2 | Mar 5, 2018 |
| Avascular necrosis of femoral head, primary, 1 | 1 | Dec 18, 2017 |
| BCS1L-related disorder | 1 | Aug 7, 2018 |
| BMP4-Related Syndromic Microphthalmia | 1 | Apr 29, 2019 |
| Bailey-Bloch congenital myopathy | 1 | Dec 3, 2017 |
| Bardet-Biedl syndrome | 1 | Dec 3, 2017 |
| Bardet-Biedl syndrome 10 | 1 | May 18, 2024 |
| Bardet-Biedl syndrome 11 | 1 | Dec 10, 2023 |
| Bardet-Biedl syndrome 12 | 1 | Dec 18, 2017 |
| Bardet-Biedl syndrome 14 | 3 | Oct 16, 2024 |
| Bardet-Biedl syndrome 16 | 1 | Apr 8, 2019 |
| Bardet-Biedl syndrome 17 | 1 | Dec 18, 2017 |
| Bardet-Biedl syndrome 18 | 1 | Mar 5, 2018 |
| Bardet-Biedl syndrome 4 | 1 | Apr 8, 2019 |
| Bardet-Biedl syndrome 6 | 1 | Oct 25, 2024 |
| Bardet-Biedl syndrome 7 | 3 | May 3, 2020 |
| Bardet-Biedl syndrome 8 | 1 | May 19, 2024 |
| Bardet-Biedl syndrome 9 | 3 | Oct 16, 2024 |
| Bartter disease type 1 | 1 | May 3, 2020 |
| Bartter disease type 3 | 3 | Apr 29, 2019 |
| Bartter disease type 4B | 3 | Apr 29, 2019 |
| Basal ganglia calcification, idiopathic, 6 | 1 | Apr 8, 2019 |
| Becker muscular dystrophy | 1 | May 3, 2020 |
| Benign recurrent intrahepatic cholestasis type 1 | 1 | Mar 5, 2018 |
| Benign recurrent intrahepatic cholestasis type 2 | 1 | Apr 8, 2019 |
| Beta-D-mannosidosis | 1 | Dec 3, 2017 |
| Bethlem myopathy 1A | 12 | May 11, 2024 |
| Bethlem myopathy 2 | 2 | Apr 29, 2019 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Dec 18, 2017 |
| Bilateral frontoparietal polymicrogyria | 1 | Apr 8, 2019 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 2 | Apr 29, 2019 |
| Biotin-responsive basal ganglia disease | 1 | Dec 18, 2017 |
| Biotinidase deficiency | 1 | May 11, 2024 |
| Birk-Barel syndrome | 1 | Apr 8, 2019 |
| Blau syndrome | 1 | Apr 29, 2019 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 3 | Dec 18, 2017 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | May 3, 2020 |
| Bloom syndrome | 1 | Aug 7, 2018 |
| Bohring-Opitz syndrome | 2 | Aug 7, 2018 |
| Bone fragility with contractures, arterial rupture, and deafness | 1 | May 3, 2020 |
| Bone marrow failure syndrome 3 | 1 | Jun 9, 2024 |
| Boomerang dysplasia | 1 | Aug 7, 2018 |
| Bradyopsia | 1 | May 3, 2020 |
| Breast neoplasm | 1 | May 3, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 17 | May 3, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 20 | May 3, 2020 |
| Bronchiectasis with or without elevated sweat chloride 2 | 2 | Aug 7, 2018 |
| Brown-Vialetto-van Laere syndrome 1 | 1 | Mar 5, 2018 |
| Brown-Vialetto-van Laere syndrome 2 | 1 | Mar 5, 2018 |
| Brugada syndrome 1 | 1 | Aug 7, 2018 |
| Brugada syndrome 9 | 1 | Dec 3, 2017 |
| CAPN3-related disorder | 1 | Apr 29, 2019 |
| CD99 Positive Neoplastic Cells Present | 1 | Apr 8, 2019 |
| CEP290-related disorder | 1 | Aug 7, 2018 |
| CFHR5 deficiency | 1 | Dec 18, 2017 |
| CHARGE syndrome | 3 | May 3, 2020 |
| CHEK2-related cancer predisposition | 1 | Apr 29, 2019 |
| CHIME syndrome | 1 | Apr 29, 2019 |
| CHRNA1-Related Congenital Myasthenic Syndrome | 1 | Aug 7, 2018 |
| COACH syndrome 1 | 4 | Apr 8, 2019 |
| COG4-congenital disorder of glycosylation | 1 | May 3, 2020 |
| COG5-congenital disorder of glycosylation | 2 | Apr 29, 2019 |
| COG6-congenital disorder of glycosylation | 2 | Aug 7, 2018 |
| Carcinoma of colon | 1 | Dec 18, 2017 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 3 | Apr 23, 2024 |
| Cardiac valvular dysplasia, X-linked | 1 | Mar 5, 2018 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 1 | Apr 29, 2019 |
| Carney complex - trismus - pseudocamptodactyly syndrome | 1 | Apr 8, 2019 |
| Carnitine acylcarnitine translocase deficiency | 1 | Aug 7, 2018 |
| Carnitine palmitoyltransferase II deficiency | 2 | Dec 30, 2023 |
| Carpal tunnel syndrome | 1 | Mar 5, 2018 |
| Cataract 5 multiple types | 1 | Dec 3, 2017 |
| Cataract 6 multiple types | 2 | Apr 29, 2019 |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 1 | Aug 7, 2018 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 1 | May 3, 2020 |
| Cenani-Lenz syndactyly syndrome | 1 | Apr 29, 2019 |
| Central core myopathy | 5 | May 6, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 1 | Mar 5, 2018 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 2 | May 3, 2020 |
| Cerebellar ataxia-hypogonadism syndrome | 1 | Aug 7, 2018 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 1 | Jun 9, 2024 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Apr 8, 2019 |
| Cerebral amyloid angiopathy, APP-related | 1 | Apr 29, 2019 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Dec 3, 2017 |
| Cerebrooculofacioskeletal syndrome 1 | 3 | Aug 7, 2018 |
| Cerebrooculofacioskeletal syndrome 3 | 1 | May 6, 2024 |
| Cerebrooculofacioskeletal syndrome 4 | 1 | Apr 29, 2019 |
| Ceroid lipofuscinosis, neuronal, 3, protracted | 1 | Dec 30, 2023 |
| Ceroid lipofuscinosis, neuronal, 6A | 5 | May 3, 2020 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Mar 5, 2018 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 | Apr 29, 2019 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | May 3, 2020 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Mar 5, 2018 |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 | Mar 5, 2018 |
| Charcot-Marie-Tooth disease axonal type 2V | 1 | Mar 5, 2018 |
| Charcot-Marie-Tooth disease recessive intermediate A | 1 | Mar 5, 2018 |
| Charcot-Marie-Tooth disease type 1D | 2 | Apr 29, 2019 |
| Charcot-Marie-Tooth disease type 2A2 | 2 | Oct 7, 2023 |
| Charcot-Marie-Tooth disease type 2B1 | 1 | Mar 5, 2018 |
| Charcot-Marie-Tooth disease type 4A | 1 | Mar 5, 2018 |
| Charcot-Marie-Tooth disease type 4B2 | 2 | Aug 7, 2018 |
| Charcot-Marie-Tooth disease type 4B3 | 3 | May 3, 2020 |
| Charcot-Marie-Tooth disease type 4E | 1 | Mar 5, 2018 |
| Charcot-Marie-Tooth disease type 4F | 3 | Apr 29, 2019 |
| Charcot-Marie-Tooth disease type 4G | 1 | Aug 7, 2018 |
| Charcot-Marie-Tooth disease type 4H | 2 | Aug 7, 2018 |
| Charcot-Marie-Tooth disease type 4J | 2 | Apr 29, 2019 |
| Charcot-Marie-Tooth disease type 4K | 1 | Mar 5, 2018 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 | Aug 7, 2018 |
| Charlevoix-Saguenay spastic ataxia | 3 | Dec 3, 2017 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | May 3, 2020 |
| Cholestanol storage disease | 1 | Dec 3, 2017 |
| Cholestasis, intrahepatic, of pregnancy, 1 | 1 | Mar 5, 2018 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 | Mar 5, 2018 |
| Chorea-acanthocytosis | 2 | May 3, 2020 |
| Choroidal dystrophy, central areolar, 1 | 3 | Apr 29, 2019 |
| Chudley-McCullough syndrome | 2 | May 3, 2020 |
| Citrullinemia type I | 1 | Aug 7, 2018 |
| Citrullinemia type II | 2 | Apr 29, 2019 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 | Mar 5, 2018 |
| Classic dopamine transporter deficiency syndrome | 1 | Apr 8, 2019 |
| Classic homocystinuria | 4 | Apr 13, 2024 |
| Cleidocranial dysostosis | 4 | Apr 8, 2019 |
| Cobalamin C disease | 5 | Feb 12, 2024 |
| Cobblestone lissencephaly without muscular or ocular involvement | 1 | Dec 3, 2017 |
| Cockayne syndrome type 2 | 3 | Apr 8, 2019 |
| Coenzyme Q10 deficiency, primary, 3 | 1 | May 3, 2020 |
| Coffin-Lowry syndrome | 1 | Aug 7, 2018 |
| Coffin-Siris syndrome | 2 | Apr 8, 2019 |
| Coffin-Siris syndrome 6 | 1 | May 3, 2020 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | Dec 18, 2017 |
| Cohen syndrome | 5 | Apr 29, 2019 |
| Cold-induced sweating syndrome 2 | 1 | Mar 5, 2018 |
| Collagen 6-related myopathy | 1 | Aug 7, 2018 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | May 3, 2020 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 1 | Apr 23, 2024 |
| Combined immunodeficiency due to STIM1 deficiency | 1 | Apr 8, 2019 |
| Combined malonic and methylmalonic acidemia | 1 | Mar 5, 2018 |
| Combined oxidative phosphorylation defect type 20 | 3 | May 3, 2020 |
| Combined oxidative phosphorylation defect type 27 | 1 | Apr 29, 2019 |
| Complement component 2 deficiency | 1 | May 3, 2020 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Apr 29, 2019 |
| Complex cortical dysplasia with other brain malformations 2 | 2 | Apr 22, 2024 |
| Cone-rod dystrophy 13 | 1 | Aug 7, 2018 |
| Cone-rod dystrophy 2 | 1 | Apr 29, 2019 |
| Cone-rod dystrophy 3 | 1 | Dec 3, 2017 |
| Cone-rod dystrophy 6 | 4 | May 3, 2020 |
| Cone-rod dystrophy 7 | 1 | Apr 29, 2019 |
| Cone-rod dystrophy 9 | 1 | May 3, 2020 |
| Congenital Muscular Dystrophy, CHKB-related | 1 | Apr 8, 2019 |
| Congenital Muscular Dystrophy, LAMA2-related | 1 | Apr 29, 2019 |
| Congenital adrenal hypoplasia, X-linked | 1 | Aug 7, 2018 |
| Congenital bile acid synthesis defect 2 | 2 | May 3, 2020 |
| Congenital brain dysgenesis due to glutamine synthetase deficiency | 1 | Aug 7, 2018 |
| Congenital contractural arachnodactyly | 2 | Apr 8, 2019 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Aug 7, 2018 |
| Congenital disorder of glycosylation type Ir | 1 | May 3, 2020 |
| Congenital glucose-galactose malabsorption | 1 | Jun 19, 2017 |
| Congenital hyperammonemia, type I | 1 | Apr 29, 2019 |
| Congenital insensitivity to pain-hypohidrosis syndrome | 1 | Sep 11, 2019 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 3 | Apr 8, 2019 |
| Congenital multicore myopathy with external ophthalmoplegia | 4 | Mar 5, 2018 |
| Congenital muscular dystrophy due to LMNA mutation | 3 | Feb 6, 2021 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 4 | Dec 30, 2023 |
| Congenital muscular dystrophy due to partial LAMA2 deficiency | 2 | Apr 8, 2019 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | May 3, 2020 |
| Congenital myasthenic syndrome | 1 | Mar 5, 2018 |
| Congenital myasthenic syndrome 10 | 1 | Dec 3, 2017 |
| Congenital myasthenic syndrome 11 | 1 | Mar 5, 2018 |
| Congenital myasthenic syndrome 13 | 1 | Apr 8, 2019 |
| Congenital myasthenic syndrome 14 | 1 | Apr 29, 2019 |
| Congenital myasthenic syndrome 17 | 1 | Apr 29, 2019 |
| Congenital myasthenic syndrome 19 | 1 | Mar 5, 2018 |
| Congenital myasthenic syndrome 3A | 1 | Mar 5, 2018 |
| Congenital myasthenic syndrome 3B | 1 | Mar 5, 2018 |
| Congenital myasthenic syndrome 3C | 1 | Mar 5, 2018 |
| Congenital myasthenic syndrome 4A | 1 | Aug 7, 2018 |
| Congenital myasthenic syndrome 4B | 2 | May 3, 2020 |
| Congenital myasthenic syndrome 4C | 2 | Aug 7, 2018 |
| Congenital myasthenic syndrome 5 | 2 | Aug 7, 2018 |
| Congenital myasthenic syndrome 8 | 1 | Apr 29, 2019 |
| Congenital myopathy 23 | 1 | Mar 5, 2018 |
| Congenital myopathy 4B, autosomal recessive | 1 | May 3, 2020 |
| Congenital myopathy with fiber type disproportion | 4 | May 3, 2020 |
| Congenital myopathy with internal nuclei and atypical cores | 1 | Apr 8, 2019 |
| Congenital myotonia, autosomal dominant form | 3 | Apr 8, 2019 |
| Congenital myotonia, autosomal recessive form | 2 | Apr 8, 2019 |
| Congenital prothrombin deficiency | 1 | Jul 20, 2024 |
| Congenital stationary night blindness 1G | 1 | Apr 8, 2019 |
| Congenital stationary night blindness 2A | 1 | Aug 7, 2018 |
| Congenital stationary night blindness autosomal dominant 3 | 1 | Apr 8, 2019 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 | Aug 7, 2018 |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 | Mar 5, 2018 |
| Corneal dystrophy-perceptive deafness syndrome | 1 | Dec 3, 2017 |
| Cornelia de Lange syndrome 1 | 3 | Oct 30, 2023 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Apr 29, 2019 |
| Costello syndrome | 1 | May 3, 2020 |
| Craniofrontonasal syndrome | 1 | Apr 8, 2019 |
| Craniosynostosis and dental anomalies | 1 | Dec 3, 2017 |
| Crigler-Najjar syndrome | 2 | Mar 5, 2018 |
| Curry-Hall syndrome | 1 | Aug 7, 2018 |
| Cutis laxa, autosomal recessive, type 1B | 1 | May 3, 2020 |
| Cystathioninuria | 1 | Apr 29, 2019 |
| Cystic fibrosis | 11 | May 3, 2020 |
| Cystinuria | 2 | Apr 29, 2019 |
| D-Glyceric aciduria | 3 | Mar 5, 2018 |
| DEND syndrome | 1 | May 3, 2020 |
| DPAGT1-congenital disorder of glycosylation | 1 | Apr 8, 2019 |
| DYSF-related disorder | 1 | Apr 29, 2019 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Dec 18, 2017 |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 | May 3, 2020 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Dec 3, 2017 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Dec 3, 2017 |
| Deficiency of acetyl-CoA acetyltransferase | 1 | Dec 18, 2017 |
| Deficiency of alpha-mannosidase | 1 | Aug 7, 2018 |
| Deficiency of beta-ureidopropionase | 2 | Jan 9, 2024 |
| Deficiency of butyryl-CoA dehydrogenase | 3 | Dec 10, 2023 |
| Deficiency of guanidinoacetate methyltransferase | 1 | Apr 22, 2024 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Dec 18, 2017 |
| Deficiency of malonyl-CoA decarboxylase | 1 | Mar 5, 2018 |
| Deficiency of steroid 11-beta-monooxygenase | 1 | Aug 7, 2018 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Mar 5, 2018 |
| Dejerine-Sottas disease | 3 | Apr 29, 2019 |
| Dermatitis, atopic, 2 | 1 | Dec 18, 2017 |
| Desbuquois dysplasia 1 | 2 | Oct 19, 2023 |
| Desmin-related myofibrillar myopathy | 1 | Dec 3, 2017 |
| Developmental and epileptic encephalopathy 92 | 1 | May 3, 2020 |
| Developmental and epileptic encephalopathy 93 | 1 | Apr 22, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Aug 7, 2018 |
| Developmental and epileptic encephalopathy, 1 | 15 | May 3, 2020 |
| Developmental and epileptic encephalopathy, 11 | 1 | Apr 29, 2019 |
| Developmental and epileptic encephalopathy, 12 | 1 | Mar 5, 2018 |
| Developmental and epileptic encephalopathy, 13 | 1 | Dec 3, 2017 |
| Developmental and epileptic encephalopathy, 14 | 2 | May 3, 2020 |
| Developmental and epileptic encephalopathy, 18 | 1 | Aug 7, 2018 |
| Developmental and epileptic encephalopathy, 2 | 3 | Mar 5, 2018 |
| Developmental and epileptic encephalopathy, 24 | 1 | Aug 7, 2018 |
| Developmental and epileptic encephalopathy, 35 | 1 | Apr 22, 2024 |
| Developmental and epileptic encephalopathy, 36 | 2 | Apr 8, 2019 |
| Developmental and epileptic encephalopathy, 4 | 1 | May 3, 2020 |
| Developmental and epileptic encephalopathy, 42 | 2 | May 3, 2020 |
| Developmental and epileptic encephalopathy, 45 | 1 | Apr 29, 2019 |
| Developmental and epileptic encephalopathy, 46 | 1 | May 3, 2020 |
| Developmental and epileptic encephalopathy, 5 | 1 | Apr 29, 2019 |
| Developmental and epileptic encephalopathy, 53 | 2 | Apr 8, 2019 |
| Developmental and epileptic encephalopathy, 54 | 2 | May 3, 2020 |
| Developmental and epileptic encephalopathy, 60 | 1 | Jul 8, 2024 |
| Developmental and epileptic encephalopathy, 7 | 2 | Apr 29, 2019 |
| Developmental and epileptic encephalopathy, 81 | 1 | May 27, 2024 |
| Developmental delay with autism spectrum disorder and gait instability | 6 | Apr 29, 2019 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | May 3, 2020 |
| Diamond-Blackfan anemia 6 | 2 | May 3, 2020 |
| Diamond-Blackfan anemia 7 | 1 | Dec 3, 2017 |
| Diamond-Blackfan anemia 8 | 1 | Apr 29, 2019 |
| Diaphanospondylodysostosis | 1 | Aug 7, 2018 |
| Diaphyseal dysplasia | 1 | Apr 8, 2019 |
| Diaphyseal medullary stenosis-bone malignancy syndrome | 1 | Apr 29, 2019 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 | Aug 7, 2018 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | Apr 8, 2019 |
| Dilated cardiomyopathy 1A | 2 | May 3, 2020 |
| Dilated cardiomyopathy 1E | 1 | Aug 7, 2018 |
| Dilated cardiomyopathy 1G | 3 | May 3, 2020 |
| Dilated cardiomyopathy 1JJ | 1 | Apr 29, 2019 |
| Dilated cardiomyopathy 1KK | 1 | Apr 29, 2019 |
| Dilated cardiomyopathy 1S | 1 | May 3, 2020 |
| Dimethylglycine dehydrogenase deficiency | 1 | Mar 5, 2018 |
| Distal arthrogryposis type 2B1 | 3 | May 3, 2020 |
| Distal myopathy with posterior leg and anterior hand involvement | 5 | Aug 7, 2018 |
| Donnai-Barrow syndrome | 2 | Apr 8, 2019 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 2 | Mar 5, 2018 |
| Duchenne muscular dystrophy | 3 | May 3, 2020 |
| Dysequilibrium syndrome | 1 | Mar 5, 2018 |
| Dyskeratosis congenita, autosomal recessive 3 | 1 | Apr 29, 2019 |
| Dyskeratosis congenita, autosomal recessive 5 | 1 | Aug 7, 2018 |
| Dyskinesia with orofacial involvement, autosomal dominant | 2 | May 3, 2020 |
| Dystonia 23 | 2 | Apr 29, 2019 |
| Dystonia 27 | 3 | Aug 7, 2018 |
| Dystonia 28, childhood-onset | 1 | Mar 5, 2018 |
| EEM syndrome | 1 | May 3, 2020 |
| ERCC2-related disorder | 2 | Apr 8, 2019 |
| ERCC6-related disorder | 1 | Apr 29, 2019 |
| Early-onset Parkinson disease 20 | 2 | Apr 8, 2019 |
| Early-onset myopathy with fatal cardiomyopathy | 4 | May 3, 2020 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 3 | Aug 7, 2018 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 1 | Apr 8, 2019 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Dec 18, 2017 |
| Ectodermal dysplasia 4, hair/nail type | 1 | Apr 29, 2019 |
| Ectopia lentis 1, isolated, autosomal dominant | 1 | Mar 5, 2018 |
| Ectopia lentis 2, isolated, autosomal recessive | 1 | Apr 8, 2019 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 | Apr 8, 2019 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 3 | Apr 8, 2019 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 | Apr 29, 2019 |
| Ellis-van Creveld syndrome | 1 | Aug 7, 2018 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 6 | May 3, 2020 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 7 | May 3, 2020 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 1 | Apr 8, 2019 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 | Apr 8, 2019 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 1 | Dec 3, 2017 |
| Epidermolysis bullosa dystrophica | 2 | Aug 7, 2018 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 1 | Aug 7, 2018 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 1 | Aug 7, 2018 |
| Epidermolysis bullosa simplex with nail dystrophy | 1 | May 6, 2024 |
| Epidermolysis bullosa simplex, Ogna type | 1 | Mar 5, 2018 |
| Epilepsy, childhood absence, susceptibility to, 1 | 1 | Mar 5, 2018 |
| Epilepsy, familial adult myoclonic, 5 | 1 | Apr 8, 2019 |
| Epilepsy, familial focal, with variable foci 1 | 1 | May 3, 2020 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Mar 5, 2018 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | Apr 8, 2019 |
| Epiphyseal dysplasia, multiple, 3 | 3 | May 3, 2020 |
| Epiphyseal dysplasia, multiple, 7 | 1 | Mar 5, 2018 |
| Episodic ataxia type 2 | 2 | Aug 7, 2018 |
| Erythrokeratodermia variabilis et progressiva 1 | 1 | Dec 3, 2017 |
| Ethylmalonic encephalopathy | 1 | May 6, 2024 |
| Exostoses, multiple, type 2 | 1 | Apr 29, 2019 |
| Exudative vitreoretinopathy 2, X-linked | 1 | Dec 18, 2017 |
| Exudative vitreoretinopathy 4 | 1 | May 3, 2020 |
| FG syndrome 1 | 1 | Aug 7, 2018 |
| FG syndrome 2 | 2 | Aug 7, 2018 |
| FIG4-related disorder | 1 | Aug 7, 2018 |
| FLNA-related disorder | 3 | Apr 29, 2019 |
| Fabry disease | 1 | Dec 18, 2017 |
| Factor VII deficiency | 1 | Aug 7, 2018 |
| Familial Mediterranean fever | 2 | Apr 29, 2019 |
| Familial Mediterranean fever, autosomal dominant | 1 | May 3, 2020 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | May 3, 2020 |
| Familial acute necrotizing encephalopathy | 1 | Oct 29, 2024 |
| Familial adenomatous polyposis 2 | 1 | Mar 5, 2018 |
| Familial aplasia of the vermis | 4 | May 3, 2020 |
| Familial apolipoprotein C-II deficiency | 1 | Apr 8, 2019 |
| Familial cancer of breast | 26 | May 3, 2020 |
| Familial cold autoinflammatory syndrome 1 | 1 | Apr 29, 2019 |
| Familial colorectal cancer | 4 | Dec 10, 2023 |
| Familial dysautonomia | 1 | Dec 18, 2017 |
| Familial hemophagocytic lymphohistiocytosis 2 | 2 | May 3, 2020 |
| Familial hemophagocytic lymphohistiocytosis 3 | 2 | May 3, 2020 |
| Familial hemophagocytic lymphohistiocytosis 5 | 1 | Aug 7, 2018 |
| Familial hypercholesterolemia | 1 | Apr 8, 2019 |
| Familial hyperinsulinism | 2 | Feb 12, 2024 |
| Familial hypokalemia-hypomagnesemia | 1 | Mar 5, 2018 |
| Familial infantile myasthenia | 1 | Jul 20, 2024 |
| Familial isolated deficiency of vitamin E | 1 | Apr 29, 2019 |
| Familial meningioma | 1 | Apr 29, 2019 |
| Familial porphyria cutanea tarda | 1 | May 3, 2020 |
| Familial renal glucosuria | 2 | May 3, 2020 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 | Dec 18, 2017 |
| Fanconi anemia complementation group A | 2 | May 3, 2020 |
| Fanconi anemia complementation group C | 1 | May 3, 2020 |
| Fanconi anemia complementation group G | 1 | Aug 7, 2018 |
| Fanconi renotubular syndrome 1 | 1 | Mar 5, 2018 |
| Fanconi-Bickel syndrome | 2 | May 3, 2020 |
| Farber lipogranulomatosis | 1 | Apr 29, 2019 |
| Fasting plasma glucose level quantitative trait locus 1 | 1 | Mar 5, 2018 |
| Febrile seizures, familial, 1 | 4 | Apr 8, 2019 |
| Fetal akinesia deformation sequence 1 | 1 | Mar 5, 2018 |
| Fetal hemoglobin quantitative trait locus 5 | 1 | May 9, 2014 |
| Fibrochondrogenesis 1 | 1 | May 3, 2020 |
| Finnish congenital nephrotic syndrome | 1 | Dec 18, 2017 |
| Fraser syndrome 1 | 1 | Mar 5, 2018 |
| Fraser syndrome 2 | 1 | Mar 5, 2018 |
| Frontometaphyseal dysplasia 1 | 2 | Aug 7, 2018 |
| Frontonasal dysplasia with alopecia and genital anomaly | 1 | Aug 7, 2018 |
| Frontotemporal dementia | 2 | Apr 29, 2019 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 1 | Aug 7, 2018 |
| Fructose-biphosphatase deficiency | 2 | Mar 5, 2018 |
| Fucosidosis | 2 | May 3, 2020 |
| GLB1-related disorder | 1 | Apr 8, 2019 |
| GM3 synthase deficiency | 2 | May 3, 2020 |
| GNPTG-mucolipidosis | 1 | Jun 19, 2017 |
| Galactosylceramide beta-galactosidase deficiency | 4 | Jul 20, 2024 |
| Galloway-Mowat syndrome 1 | 2 | Aug 7, 2018 |
| Gastrointestinal stromal tumor | 1 | Dec 18, 2017 |
| Gaucher disease perinatal lethal | 1 | Dec 3, 2017 |
| Gaucher disease type I | 4 | May 3, 2020 |
| Geleophysic dysplasia 1 | 1 | May 3, 2020 |
| Geleophysic dysplasia 2 | 1 | Mar 5, 2018 |
| Geleophysic dysplasia 3 | 1 | Mar 5, 2018 |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 | Apr 29, 2019 |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 | May 3, 2020 |
| Generalized epilepsy with febrile seizures plus, type 7 | 3 | Aug 7, 2018 |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 | Mar 5, 2018 |
| Geroderma osteodysplastica | 1 | May 3, 2020 |
| Ghosal hematodiaphyseal dysplasia | 1 | Apr 22, 2024 |
| Giant axonal neuropathy 1 | 1 | Apr 8, 2019 |
| Gillessen-Kaesbach-Nishimura syndrome | 1 | Aug 7, 2018 |
| Glucocorticoid deficiency with achalasia | 2 | Apr 29, 2019 |
| Glucose-6-phosphate transport defect | 1 | Nov 27, 2023 |
| Glutaric aciduria, type 1 | 4 | Apr 8, 2019 |
| Glutaryl-CoA oxidase deficiency | 2 | Apr 29, 2019 |
| Glycogen storage disease IXa1 | 4 | Nov 26, 2023 |
| Glycogen storage disease IXb | 3 | Aug 7, 2018 |
| Glycogen storage disease IXd | 2 | May 3, 2020 |
| Glycogen storage disease XV | 1 | Mar 5, 2018 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 3 | Nov 26, 2023 |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 1 | Apr 8, 2019 |
| Glycogen storage disease type III | 6 | Nov 27, 2023 |
| Glycogen storage disease type X | 1 | Aug 7, 2018 |
| Glycogen storage disease, type II | 3 | May 3, 2020 |
| Glycogen storage disease, type IV | 1 | Nov 27, 2023 |
| Glycogen storage disease, type V | 5 | Nov 27, 2023 |
| Glycogen storage disease, type VI | 2 | Mar 5, 2018 |
| Gnathodiaphyseal dysplasia | 2 | Mar 5, 2018 |
| Goldberg-Shprintzen syndrome | 1 | Aug 10, 2017 |
| Gonadotropin deficiency | 1 | Mar 5, 2018 |
| Gordon syndrome | 1 | Mar 5, 2018 |
| Gorlin syndrome | 1 | Dec 18, 2017 |
| Griscelli syndrome type 3 | 1 | May 6, 2024 |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 1 | Apr 29, 2019 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Apr 8, 2019 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | Apr 29, 2019 |
| H syndrome | 1 | May 3, 2020 |
| HSD10 mitochondrial disease | 1 | Aug 7, 2018 |
| Hajdu-Cheney syndrome | 1 | Aug 7, 2018 |
| Harel-Yoon syndrome | 3 | May 3, 2020 |
| Hb SS disease | 1 | Apr 22, 2024 |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 | Apr 29, 2019 |
| Hearing loss, autosomal dominant 73 | 1 | Mar 5, 2018 |
| Heimler syndrome 1 | 2 | Aug 7, 2018 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 | Aug 7, 2018 |
| Hepatocellular carcinoma | 1 | May 3, 2020 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 6 | May 3, 2020 |
| Hereditary breast ovarian cancer syndrome | 7 | Dec 10, 2023 |
| Hereditary cancer | 1 | Aug 10, 2017 |
| Hereditary cancer-predisposing syndrome | 5 | May 3, 2020 |
| Hereditary cerebral hemorrhage with amyloidosis | 1 | Apr 29, 2019 |
| Hereditary fructosuria | 1 | Mar 5, 2018 |
| Hereditary sensory and autonomic neuropathy type 6 | 1 | Dec 18, 2017 |
| Hereditary sensory and autonomic neuropathy type 7 | 1 | Aug 7, 2018 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 | Mar 5, 2018 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 | Apr 8, 2019 |
| Hereditary spastic paraplegia 10 | 1 | Apr 8, 2019 |
| Hereditary spastic paraplegia 11 | 1 | Mar 5, 2018 |
| Hereditary spastic paraplegia 12 | 1 | Mar 5, 2018 |
| Hereditary spastic paraplegia 15 | 1 | Mar 5, 2018 |
| Hereditary spastic paraplegia 35 | 1 | May 3, 2020 |
| Hereditary spastic paraplegia 4 | 1 | Apr 8, 2019 |
| Hereditary spastic paraplegia 46 | 1 | Apr 29, 2019 |
| Hereditary spastic paraplegia 49 | 1 | Apr 8, 2019 |
| Hereditary spastic paraplegia 50 | 2 | May 3, 2020 |
| Hereditary spastic paraplegia 54 | 3 | Apr 29, 2019 |
| Hereditary spastic paraplegia 5A | 6 | Aug 7, 2018 |
| Hereditary spastic paraplegia 64 | 1 | Apr 29, 2019 |
| Hereditary spastic paraplegia 7 | 1 | May 3, 2020 |
| Hereditary spastic paraplegia 73 | 1 | May 3, 2020 |
| Hereditary spastic paraplegia 75 | 1 | Mar 5, 2018 |
| Hereditary spastic paraplegia 8 | 5 | Apr 8, 2019 |
| Hermansky-Pudlak syndrome 3 | 1 | Mar 5, 2018 |
| Heterotopia, periventricular, X-linked dominant | 1 | Mar 5, 2018 |
| Histiocytic medullary reticulosis | 2 | May 11, 2024 |
| Hogue-Janssens syndrome 1 | 2 | May 3, 2020 |
| Holoprosencephaly 3 | 1 | Mar 5, 2018 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 4 | May 3, 2020 |
| Huntington disease-like 2 | 1 | Mar 5, 2018 |
| Hurler syndrome | 3 | May 3, 2020 |
| Hydrocephalus | 2 | Aug 7, 2018 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 2 | Apr 29, 2019 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 3 | Apr 29, 2019 |
| Hydrolethalus syndrome 2 | 1 | Dec 3, 2017 |
| Hypercholesterolemia, familial, 1 | 1 | Mar 5, 2018 |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | 1 | Apr 8, 2019 |
| Hyperekplexia 1 | 1 | May 3, 2020 |
| Hyperhomocysteinemia | 1 | Apr 13, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 2 | Mar 5, 2018 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | Mar 5, 2018 |
| Hyperlipidemia, familial combined, LPL related | 1 | Dec 10, 2023 |
| Hyperlipoproteinemia, type I | 1 | Dec 3, 2017 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 1 | Dec 18, 2017 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 1 | May 3, 2020 |
| Hyperphosphatasia-intellectual disability syndrome | 1 | May 3, 2020 |
| Hypertrophic cardiomyopathy 1 | 1 | Dec 10, 2023 |
| Hypertrophic cardiomyopathy 6 | 1 | Apr 8, 2019 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Aug 7, 2018 |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 1 | Dec 18, 2017 |
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | 1 | Mar 5, 2018 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Dec 3, 2017 |
| Hypokalemic periodic paralysis, type 1 | 3 | Apr 29, 2019 |
| Hypomyelinating leukodystrophy 11 | 2 | Mar 5, 2018 |
| Hypomyelinating leukodystrophy 9 | 1 | Apr 8, 2019 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 1 | May 3, 2020 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 | Aug 7, 2018 |
| Hypospadias 1, X-linked | 1 | Aug 7, 2018 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 5 | May 3, 2020 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 1 | Mar 5, 2018 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 3 | May 3, 2020 |
| Hypouricemia, renal, 2 | 1 | Aug 7, 2018 |
| IFAP syndrome 1, with or without BRESHECK syndrome | 1 | Dec 18, 2017 |
| Ichthyosis vulgaris | 3 | May 3, 2020 |
| Imerslund-Grasbeck syndrome | 1 | Dec 3, 2017 |
| Immunodeficiency, common variable, 3 | 1 | Apr 29, 2019 |
| Immunodeficiency, common variable, 7 | 1 | Apr 29, 2019 |
| Infantile GM1 gangliosidosis | 2 | Dec 18, 2017 |
| Infantile cerebellar-retinal degeneration | 2 | Apr 8, 2019 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 | May 3, 2020 |
| Infantile nephronophthisis | 1 | Apr 29, 2019 |
| Infantile neuroaxonal dystrophy | 8 | Dec 30, 2023 |
| Infantile onset spinocerebellar ataxia | 1 | Apr 29, 2019 |
| Infantile-onset X-linked spinal muscular atrophy | 1 | Mar 5, 2018 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 | May 3, 2020 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Apr 29, 2019 |
| Intellectual disability, FRA12A type | 2 | Apr 8, 2019 |
| Intellectual disability, X-linked 1 | 2 | May 3, 2020 |
| Intellectual disability, X-linked 101 | 1 | Mar 5, 2018 |
| Intellectual disability, X-linked 102 | 2 | Apr 8, 2019 |
| Intellectual disability, X-linked 104 | 1 | May 3, 2020 |
| Intellectual disability, X-linked 106 | 1 | Apr 29, 2019 |
| Intellectual disability, X-linked 19 | 1 | Aug 7, 2018 |
| Intellectual disability, X-linked 30 | 1 | Dec 3, 2017 |
| Intellectual disability, X-linked 97 | 1 | Dec 18, 2017 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Mar 5, 2018 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Apr 8, 2019 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Apr 8, 2019 |
| Intellectual disability, X-linked, with panhypopituitarism | 1 | Apr 29, 2019 |
| Intellectual disability, autosomal dominant 29 | 2 | Apr 29, 2019 |
| Intellectual disability, autosomal dominant 33 | 1 | Dec 18, 2017 |
| Intellectual disability, autosomal dominant 34 | 2 | Apr 8, 2019 |
| Intellectual disability, autosomal dominant 39 | 1 | Apr 29, 2019 |
| Intellectual disability, autosomal dominant 42 | 1 | Apr 29, 2019 |
| Intellectual disability, autosomal dominant 45 | 2 | May 3, 2020 |
| Intellectual disability, autosomal dominant 46 | 1 | Apr 29, 2019 |
| Intellectual disability, autosomal dominant 5 | 2 | Apr 29, 2019 |
| Intellectual disability, autosomal dominant 52 | 2 | Apr 29, 2019 |
| Intellectual disability, autosomal dominant 8 | 2 | May 3, 2020 |
| Intellectual disability, autosomal dominant 9 | 4 | May 3, 2020 |
| Intellectual disability, autosomal recessive 1 | 1 | Apr 8, 2019 |
| Intellectual disability, autosomal recessive 13 | 1 | Dec 3, 2017 |
| Intellectual disability, autosomal recessive 18 | 1 | Aug 10, 2017 |
| Intellectual disability, autosomal recessive 27 | 1 | May 3, 2020 |
| Intellectual disability, autosomal recessive 3 | 3 | Apr 8, 2019 |
| Intellectual disability, autosomal recessive 42 | 2 | May 3, 2020 |
| Intellectual disability, autosomal recessive 47 | 1 | Apr 29, 2019 |
| Intellectual disability, autosomal recessive 56 | 1 | May 3, 2020 |
| Intellectual disability, autosomal recessive 57 | 1 | Mar 5, 2018 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 2 | Apr 8, 2019 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 3 | Apr 8, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Mar 5, 2018 |
| Interstitial lung disease due to ABCA3 deficiency | 2 | May 3, 2020 |
| Intestinal hypomagnesemia 1 | 1 | May 3, 2020 |
| Intestinal pseudo-obstruction | 1 | Dec 3, 2017 |
| Isolated focal cortical dysplasia type II | 2 | Aug 7, 2018 |
| Isolated microphthalmia 2 | 1 | Aug 7, 2018 |
| Isolated microphthalmia 5 | 1 | May 3, 2020 |
| Isovaleryl-CoA dehydrogenase deficiency | 2 | May 3, 2020 |
| Johanson-Blizzard syndrome | 1 | May 3, 2020 |
| Joubert syndrome 14 | 1 | Dec 18, 2017 |
| Joubert syndrome 21 | 1 | Aug 7, 2018 |
| Joubert syndrome 23 | 2 | May 6, 2024 |
| Joubert syndrome 3 | 1 | Apr 29, 2019 |
| Joubert syndrome 32 | 2 | May 3, 2020 |
| Joubert syndrome 5 | 2 | Apr 8, 2019 |
| Joubert syndrome 6 | 1 | Mar 5, 2018 |
| Joubert syndrome 7 | 1 | Mar 5, 2018 |
| Joubert syndrome 8 | 4 | Apr 8, 2019 |
| Joubert syndrome 9 | 4 | Apr 29, 2019 |
| Junctional epidermolysis bullosa gravis of Herlitz | 2 | Aug 7, 2018 |
| Junctional epidermolysis bullosa, non-Herlitz type | 2 | May 3, 2020 |
| Juvenile myelomonocytic leukemia | 1 | Mar 5, 2018 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 | Mar 5, 2018 |
| KBG syndrome | 2 | Apr 8, 2019 |
| KCNJ10-related disorder | 1 | Apr 8, 2019 |
| Kabuki syndrome 1 | 5 | May 3, 2020 |
| Keutel syndrome | 1 | Apr 8, 2019 |
| Kleefstra syndrome 2 | 1 | May 3, 2020 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 3 | Apr 8, 2019 |
| Klippel-Feil syndrome | 2 | Apr 8, 2019 |
| Knobloch syndrome | 4 | May 3, 2020 |
| Koolen-de Vries syndrome | 4 | Apr 29, 2019 |
| LAMA2-related muscular dystrophy | 3 | Apr 8, 2019 |
| LIG4-related disorder | 1 | Dec 18, 2017 |
| Lamb-Shaffer syndrome | 1 | Apr 8, 2019 |
| Landau-Kleffner syndrome | 2 | May 3, 2020 |
| Larsen syndrome | 2 | May 3, 2020 |
| Lathosterolosis | 1 | Apr 29, 2019 |
| Leber congenital amaurosis 1 | 3 | Apr 29, 2019 |
| Leber congenital amaurosis 2 | 1 | Dec 18, 2017 |
| Leber congenital amaurosis 4 | 1 | Apr 29, 2019 |
| Leber congenital amaurosis 6 | 2 | Aug 7, 2018 |
| Leber congenital amaurosis 8 | 1 | Dec 3, 2017 |
| Leber optic atrophy | 2 | May 3, 2020 |
| Left ventricular noncompaction 1 | 1 | Dec 18, 2017 |
| Leigh syndrome | 10 | Sep 16, 2024 |
| Lesch-Nyhan syndrome | 1 | Apr 8, 2019 |
| Lethal Kniest-like syndrome | 1 | Mar 5, 2018 |
| Lethal congenital contracture syndrome 1 | 1 | Dec 18, 2017 |
| Lethal congenital contracture syndrome 2 | 1 | Apr 8, 2019 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 2 | Apr 8, 2019 |
| Lethal multiple pterygium syndrome | 1 | Aug 7, 2018 |
| Lethal polymalformative syndrome, Boissel type | 1 | May 3, 2020 |
| Leukocyte adhesion deficiency 1 | 25 | Dec 30, 2023 |
| Leukocyte adhesion deficiency type II | 1 | May 3, 2020 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 1 | Apr 29, 2019 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Dec 18, 2017 |
| Leukoencephalopathy with vanishing white matter 1 | 1 | Apr 22, 2024 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 | Aug 7, 2018 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 1 | Dec 3, 2017 |
| Lichtenstein-Knorr syndrome | 1 | Apr 29, 2019 |
| Linear skin defects with multiple congenital anomalies 1 | 2 | May 3, 2020 |
| Linear skin defects with multiple congenital anomalies 2 | 1 | Apr 29, 2019 |
| Lipid proteinosis | 1 | Aug 7, 2018 |
| Long QT syndrome 3 | 1 | Aug 7, 2018 |
| Loricrin keratoderma | 1 | Aug 7, 2018 |
| Low phospholipid associated cholelithiasis | 2 | Aug 7, 2018 |
| Lowe syndrome | 1 | Aug 7, 2018 |
| Lower limb muscle weakness | 1 | Aug 7, 2018 |
| Luscan-Lumish syndrome | 1 | Apr 8, 2019 |
| Lymphangiomyomatosis | 1 | Mar 5, 2018 |
| Lymphatic malformation 6 | 3 | Apr 29, 2019 |
| Lynch syndrome 1 | 1 | Apr 29, 2019 |
| Lysinuric protein intolerance | 2 | May 3, 2020 |
| MEGF10-related myopathy | 1 | Dec 3, 2017 |
| METHYLMALONIC ACIDURIA, mut(0) TYPE | 1 | Aug 7, 2018 |
| MIRAGE syndrome | 2 | Apr 8, 2019 |
| MVK-related disorder | 1 | Feb 12, 2024 |
| MYH3-related disorder | 1 | Apr 29, 2019 |
| MYH7-related disorder | 7 | Dec 10, 2023 |
| MYH7-related skeletal myopathy | 1 | Apr 29, 2019 |
| MYO7A-related disorder | 1 | May 3, 2020 |
| Macrocephaly-autism syndrome | 1 | Dec 18, 2017 |
| Macrocephaly-developmental delay syndrome | 1 | Apr 29, 2019 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Aug 7, 2018 |
| Macular degeneration, age-related, 3 | 1 | Dec 18, 2017 |
| Macular degeneration, early-onset | 1 | Apr 8, 2019 |
| Majeed syndrome | 1 | Mar 5, 2018 |
| Malaria, susceptibility to | 1 | Aug 7, 2018 |
| Malignant hyperthermia, susceptibility to, 1 | 4 | Aug 7, 2018 |
| Malignant tumor of breast | 2 | May 11, 2024 |
| Mandibuloacral dysplasia with type A lipodystrophy | 2 | Apr 30, 2016 |
| Maple syrup urine disease | 5 | Apr 8, 2019 |
| Marden-Walker syndrome | 3 | Apr 29, 2019 |
| Marfan syndrome | 1 | Mar 5, 2018 |
| Martsolf syndrome | 1 | Dec 3, 2017 |
| Matthew-Wood syndrome | 1 | May 3, 2020 |
| Maturity onset diabetes mellitus in young | 1 | Dec 10, 2023 |
| Maturity-onset diabetes of the young type 8 | 1 | Aug 7, 2018 |
| Mayer-Rokitansky-Kuster-Hauser syndrome | 1 | Aug 7, 2018 |
| Meckel syndrome, type 1 | 2 | Aug 7, 2018 |
| Meckel syndrome, type 6 | 2 | Apr 8, 2019 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Dec 30, 2023 |
| Megaconial type congenital muscular dystrophy | 5 | Apr 29, 2019 |
| Megalencephalic leukoencephalopathy with subcortical cysts | 2 | Mar 5, 2018 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 | May 3, 2020 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 1 | Apr 29, 2019 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 1 | Apr 29, 2019 |
| Meier-Gorlin syndrome 1 | 1 | Apr 29, 2019 |
| Meier-Gorlin syndrome 3 | 1 | Aug 7, 2018 |
| Meier-Gorlin syndrome 4 | 1 | Aug 7, 2018 |
| Melanoma, cutaneous malignant, susceptibility to, 5 | 1 | Dec 18, 2017 |
| Melnick-Needles syndrome | 1 | Mar 5, 2018 |
| Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 1 | May 3, 2020 |
| Menkes kinky-hair syndrome | 3 | May 3, 2020 |
| Merosin deficient congenital muscular dystrophy | 10 | Apr 8, 2019 |
| Metachromatic leukodystrophy | 3 | Feb 12, 2024 |
| Metaphyseal chondrodysplasia, Schmid type | 1 | Mar 5, 2018 |
| Metaphyseal chondrodysplasia, Spahr type | 1 | Mar 5, 2018 |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 3 | Apr 8, 2019 |
| Methylcobalamin deficiency type cblE | 2 | Mar 5, 2018 |
| Methylmalonate semialdehyde dehydrogenase deficiency | 1 | May 3, 2020 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 2 | May 3, 2020 |
| Methylmalonic aciduria and homocystinuria type cblD | 1 | Mar 5, 2018 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 4 | May 3, 2020 |
| Methylmalonic aciduria, cblA type | 4 | May 3, 2020 |
| Methylmalonic aciduria, cblB type | 1 | Dec 3, 2017 |
| Microcephalic osteodysplastic primordial dwarfism type II | 2 | May 3, 2020 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 2 | May 6, 2024 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Dec 3, 2017 |
| Microcephaly 1, primary, autosomal recessive | 1 | Apr 29, 2019 |
| Microcephaly 16, primary, autosomal recessive | 3 | May 6, 2024 |
| Microcephaly 3, primary, autosomal recessive | 1 | Apr 22, 2024 |
| Microcephaly 5, primary, autosomal recessive | 6 | Apr 8, 2019 |
| Microcephaly 6, primary, autosomal recessive | 1 | May 3, 2020 |
| Microcephaly 9, primary, autosomal recessive | 3 | May 11, 2024 |
| Microcephaly and chorioretinopathy 1 | 1 | Apr 8, 2019 |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 1 | Aug 7, 2018 |
| Microcephaly, short stature, and limb abnormalities | 1 | Aug 7, 2018 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 | May 3, 2020 |
| Microcephaly-micromelia syndrome | 2 | Mar 5, 2018 |
| Microcytic anemia with liver iron overload | 1 | Apr 29, 2019 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Apr 29, 2019 |
| Microphthalmia, isolated, with coloboma 3 | 1 | Aug 7, 2018 |
| Microphthalmia, isolated, with coloboma 5 | 1 | Mar 5, 2018 |
| Microphthalmia, syndromic 1 | 1 | Dec 3, 2017 |
| Microphthalmia, syndromic 12 | 1 | Aug 7, 2018 |
| Migraine | 1 | Mar 5, 2018 |
| Migraine, familial hemiplegic, 1 | 1 | Mar 5, 2018 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 1 | Dec 18, 2017 |
| Mitochondrial DNA depletion syndrome 1 | 3 | Mar 5, 2018 |
| Mitochondrial DNA depletion syndrome 13 | 1 | Dec 3, 2017 |
| Mitochondrial DNA depletion syndrome 4b | 2 | Mar 5, 2018 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 2 | Dec 3, 2017 |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 1 | May 3, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 2 | Apr 29, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 29 | 1 | Apr 29, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 1 | Apr 29, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 6 | 1 | Apr 29, 2019 |
| Mitochondrial complex I deficiency | 8 | Sep 16, 2024 |
| Mitochondrial complex II deficiency, nuclear type 1 | 2 | Apr 29, 2019 |
| Mitochondrial complex III deficiency nuclear type 8 | 1 | Apr 29, 2019 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 2 | Apr 29, 2019 |
| Mitochondrial disease | 2 | Jul 20, 2024 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 2 | Apr 29, 2019 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 | Apr 8, 2019 |
| Mitochondrial trifunctional protein deficiency | 4 | May 3, 2020 |
| Miyoshi muscular dystrophy 3 | 1 | Mar 5, 2018 |
| Mosaic variegated aneuploidy syndrome 2 | 1 | Apr 29, 2019 |
| Mucolipidosis type II | 2 | May 3, 2020 |
| Mucopolysaccharidosis type 6 | 1 | Apr 29, 2019 |
| Mucopolysaccharidosis type 7 | 1 | Apr 29, 2019 |
| Mucopolysaccharidosis, MPS-II | 3 | Nov 6, 2023 |
| Mucopolysaccharidosis, MPS-III-A | 6 | Apr 8, 2019 |
| Mucopolysaccharidosis, MPS-III-B | 6 | Aug 7, 2018 |
| Mucopolysaccharidosis, MPS-III-C | 3 | Apr 29, 2019 |
| Mucopolysaccharidosis, MPS-III-D | 1 | Aug 7, 2018 |
| Mucopolysaccharidosis, MPS-IV-A | 4 | May 3, 2020 |
| Mucopolysaccharidosis, MPS-IV-B | 2 | May 3, 2020 |
| Mulibrey nanism syndrome | 1 | Aug 7, 2018 |
| Mullerian aplasia and hyperandrogenism | 1 | Aug 7, 2018 |
| Multicentric osteolysis nodulosis arthropathy spectrum | 1 | May 3, 2020 |
| Multiminicore myopathy | 1 | Mar 5, 2018 |
| Multiple acyl-CoA dehydrogenase deficiency | 1 | Aug 7, 2018 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 4 | May 3, 2020 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 1 | Mar 5, 2018 |
| Multiple epiphyseal dysplasia, Al-Gazali type | 1 | Aug 7, 2018 |
| Multiple mitochondrial dysfunctions syndrome 3 | 1 | May 3, 2020 |
| Multiple sulfatase deficiency | 2 | May 3, 2020 |
| Multiple system atrophy | 1 | Apr 29, 2019 |
| Muscular dystrophy | 3 | Jun 19, 2017 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 1 | Dec 18, 2017 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 | Aug 7, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | Apr 13, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Aug 7, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | Aug 7, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 | Mar 5, 2018 |
| Muscular dystrophy-dystroglycanopathy type B5 | 1 | Mar 5, 2018 |
| Myasthenic syndrome, congenital, 22 | 2 | Apr 8, 2019 |
| Mycobacterium tuberculosis, susceptibility to | 1 | Apr 29, 2019 |
| Myelodysplastic syndrome | 3 | Aug 7, 2018 |
| Myhre syndrome | 2 | Mar 5, 2018 |
| Myofibrillar myopathy 4 | 1 | Mar 5, 2018 |
| Myofibrillar myopathy 5 | 3 | Aug 7, 2018 |
| Myofibrillar myopathy 8 | 1 | Apr 8, 2019 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 | May 3, 2020 |
| Myopathy, RYR1-associated | 2 | Apr 29, 2019 |
| Myopathy, centronuclear, 5 | 1 | Apr 29, 2019 |
| Myopathy, distal, 5 | 1 | Apr 8, 2019 |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 1 | Aug 7, 2018 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Apr 29, 2019 |
| Myosin storage myopathy | 1 | Apr 29, 2019 |
| Myotonic dystrophy | 1 | Mar 5, 2018 |
| Nemaline myopathy 2 | 8 | May 3, 2020 |
| Nemaline myopathy 6 | 2 | May 3, 2020 |
| Nemaline myopathy 8 | 1 | Apr 8, 2019 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 3 | May 3, 2020 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 1 | Aug 7, 2018 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 1 | Dec 30, 2023 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Aug 7, 2018 |
| Neoplasm of stomach | 2 | Aug 7, 2018 |
| Nephronophthisis 15 | 1 | Apr 8, 2019 |
| Nephronophthisis 19 | 1 | May 3, 2020 |
| Nephrotic syndrome, type 2 | 1 | Aug 7, 2018 |
| Netherton syndrome | 1 | Dec 18, 2017 |
| Neu-Laxova syndrome 1 | 3 | Aug 7, 2018 |
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency | 1 | Dec 3, 2017 |
| Neurodegeneration with brain iron accumulation 4 | 2 | Apr 8, 2019 |
| Neurodegeneration with brain iron accumulation 5 | 2 | Aug 7, 2018 |
| Neurodegeneration with brain iron accumulation 7 | 2 | May 3, 2020 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Dec 10, 2023 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Dec 26, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | May 3, 2020 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 2 | Aug 7, 2018 |
| Neurodevelopmental disorder with involuntary movements | 1 | Aug 7, 2018 |
| Neurodevelopmental disorder with microcephaly, ataxia, and seizures | 1 | Apr 29, 2019 |
| Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 1 | Apr 29, 2019 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | May 3, 2020 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 2 | Apr 22, 2024 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2 | Apr 29, 2019 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 | May 3, 2020 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 2 | May 3, 2020 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | May 3, 2020 |
| Neurofibromatosis, type 1 | 4 | May 3, 2020 |
| Neurofibromatosis, type 2 | 1 | Apr 29, 2019 |
| Neuronal ceroid lipofuscinosis 1 | 3 | Mar 5, 2018 |
| Neuronal ceroid lipofuscinosis 11 | 1 | May 3, 2020 |
| Neuronal ceroid lipofuscinosis 2 | 2 | May 3, 2020 |
| Neuronal ceroid lipofuscinosis 5 | 3 | Apr 29, 2019 |
| Neuronal ceroid lipofuscinosis 7 | 1 | Mar 5, 2018 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Aug 7, 2018 |
| Neuronopathy, distal hereditary motor, type 2C | 1 | Apr 8, 2019 |
| Neuronopathy, distal hereditary motor, type 2D | 2 | Apr 29, 2019 |
| Neuronopathy, distal hereditary motor, type 7B | 1 | Apr 29, 2019 |
| Neuropathy, congenital hypomyelinating, 2 | 1 | Apr 29, 2019 |
| Neuropathy, hereditary motor and sensory, type 6B | 1 | Mar 5, 2018 |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 | Dec 18, 2017 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 4 | Apr 8, 2019 |
| Neuropathy, hereditary sensory and autonomic, type 2B | 1 | May 3, 2020 |
| Neuropathy, hereditary sensory, type 1D | 1 | Apr 29, 2019 |
| Neutral 1 amino acid transport defect | 2 | Apr 29, 2019 |
| Neutrophil immunodeficiency syndrome | 1 | Apr 29, 2019 |
| Nicolaides-Baraitser syndrome | 2 | Apr 22, 2024 |
| Niemann-Pick disease, type A | 2 | May 3, 2020 |
| Niemann-Pick disease, type C1 | 2 | Dec 3, 2017 |
| Niemann-Pick disease, type C2 | 2 | Sep 16, 2024 |
| Non-ketotic hyperglycinemia | 5 | May 3, 2020 |
| Nonpersistence of intestinal lactase | 2 | Aug 7, 2018 |
| Noonan syndrome | 2 | Dec 18, 2017 |
| Noonan syndrome 4 | 1 | May 3, 2020 |
| Noonan syndrome 7 | 1 | Aug 7, 2018 |
| Normophosphatemic familial tumoral calcinosis | 1 | Apr 8, 2019 |
| Occipital pachygyria and polymicrogyria | 1 | Aug 7, 2018 |
| Occult macular dystrophy | 1 | May 3, 2020 |
| Oculocutaneous albinism type 1B | 1 | Aug 7, 2018 |
| Oculofaciocardiodental syndrome | 1 | Dec 3, 2017 |
| Oguchi disease | 1 | Apr 29, 2019 |
| Ornithine carbamoyltransferase deficiency | 2 | May 3, 2020 |
| Orofaciodigital syndrome 18 | 1 | Mar 5, 2018 |
| Orofaciodigital syndrome type 14 | 1 | Mar 5, 2018 |
| Oroticaciduria | 1 | Dec 18, 2017 |
| Osteoarthritis | 1 | Dec 18, 2017 |
| Osteogenesis imperfecta | 1 | Apr 29, 2019 |
| Osteogenesis imperfecta type 11 | 1 | Aug 25, 2016 |
| Osteogenesis imperfecta type 8 | 2 | Mar 5, 2018 |
| Osteogenesis imperfecta type I | 1 | Dec 18, 2017 |
| Osteogenesis imperfecta type III | 1 | Apr 29, 2019 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Apr 29, 2019 |
| Osteopetrosis with renal tubular acidosis | 1 | Dec 3, 2017 |
| Osteoporosis with pseudoglioma | 3 | Jan 7, 2017 |
| Osteosclerotic metaphyseal dysplasia | 1 | Dec 3, 2017 |
| Otitis media, susceptibility to | 1 | Aug 7, 2018 |
| Ovarian neoplasm | 1 | May 3, 2020 |
| PHGDH deficiency | 3 | May 3, 2020 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Apr 8, 2019 |
| PIK3CA related overgrowth syndrome | 1 | Aug 7, 2018 |
| PLIN1-related familial partial lipodystrophy | 1 | Apr 8, 2019 |
| POLE Exonuclease Domain Mutation | 1 | Mar 5, 2018 |
| POLG-Related Spectrum Disorders | 1 | Aug 7, 2018 |
| POLG-related disorder | 2 | Apr 29, 2019 |
| POMGNT1-related disorder | 1 | Apr 29, 2019 |
| PRPH2-related disorder | 1 | Apr 29, 2019 |
| Pachyonychia congenita 1 | 1 | Aug 7, 2018 |
| Palmoplantar keratoderma, epidermolytic | 1 | Aug 7, 2018 |
| Parkinson disease, late-onset | 1 | Mar 5, 2018 |
| Paroxysmal nocturnal hemoglobinuria 1 | 1 | Mar 5, 2018 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 | Dec 18, 2017 |
| Pearson syndrome | 1 | Dec 18, 2017 |
| Pendred syndrome | 1 | Dec 3, 2017 |
| Periodontitis, aggressive 1 | 1 | Mar 5, 2018 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 3 | Apr 8, 2019 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Aug 7, 2018 |
| Periventricular nodular heterotopia 6 | 1 | May 3, 2020 |
| Periventricular nodular heterotopia 7 | 3 | Sep 16, 2024 |
| Perlman syndrome | 1 | Aug 7, 2018 |
| Peroxisome biogenesis disorder | 1 | Mar 5, 2018 |
| Peroxisome biogenesis disorder 11A (Zellweger) | 1 | Dec 3, 2017 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 | Aug 7, 2018 |
| Peroxisome biogenesis disorder 1B | 3 | Apr 29, 2019 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 3 | May 3, 2020 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 | Mar 5, 2018 |
| Peroxisome biogenesis disorder 7B | 1 | Mar 5, 2018 |
| Perry syndrome | 1 | Apr 29, 2019 |
| Persistent hyperplastic primary vitreous, autosomal recessive | 1 | Oct 30, 2018 |
| Phenylketonuria | 6 | May 6, 2024 |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 2 | May 3, 2020 |
| Phytanic acid storage disease | 1 | Sep 16, 2024 |
| Pick disease | 2 | Apr 29, 2019 |
| Pigmentary pallidal degeneration | 2 | Aug 7, 2018 |
| Pigmented nodular adrenocortical disease, primary, 2 | 1 | Dec 3, 2017 |
| Pitt-Hopkins syndrome | 1 | Mar 5, 2018 |
| Platelet-activating factor acetylhydrolase deficiency | 1 | Mar 5, 2018 |
| Polyglucosan body myopathy type 2 | 1 | Mar 5, 2018 |
| Pontocerebellar hypoplasia type 1A | 2 | May 3, 2020 |
| Pontocerebellar hypoplasia type 1B | 2 | Dec 3, 2017 |
| Pontocerebellar hypoplasia type 2B | 1 | Dec 18, 2017 |
| Pontocerebellar hypoplasia type 2D | 1 | Apr 29, 2019 |
| Pontocerebellar hypoplasia type 6 | 1 | Mar 5, 2018 |
| Pontocerebellar hypoplasia type 9 | 1 | Apr 29, 2019 |
| Pontocerebellar hypoplasia, type 1C | 1 | Mar 5, 2018 |
| Porencephaly 2 | 1 | Apr 8, 2019 |
| Porokeratosis 7, multiple types | 1 | Apr 29, 2019 |
| Porokeratosis 8, disseminated superficial actinic type | 1 | Aug 7, 2018 |
| Postaxial polydactyly | 1 | Dec 10, 2023 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 | May 3, 2020 |
| Prader-Willi syndrome | 1 | Mar 5, 2018 |
| Primary CD59 deficiency | 2 | May 3, 2020 |
| Primary ciliary dyskinesia 17 | 1 | Feb 12, 2024 |
| Primary ciliary dyskinesia 24 | 1 | Mar 5, 2018 |
| Primary coenzyme Q10 deficiency 8 | 2 | Aug 7, 2018 |
| Primary erythromelalgia | 2 | Aug 7, 2018 |
| Primary failure of tooth eruption | 1 | Dec 18, 2017 |
| Primary familial hypertrophic cardiomyopathy | 1 | Aug 7, 2018 |
| Primary hyperoxaluria, type I | 2 | May 6, 2024 |
| Primrose syndrome | 1 | May 3, 2020 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 1 | Mar 5, 2018 |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 1 | Apr 29, 2019 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 2 | Mar 5, 2018 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 | May 3, 2020 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | Dec 18, 2017 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 1 | Apr 29, 2019 |
| Progressive familial heart block type IB | 1 | May 3, 2020 |
| Progressive familial intrahepatic cholestasis type 1 | 1 | Mar 5, 2018 |
| Progressive familial intrahepatic cholestasis type 2 | 2 | Aug 7, 2018 |
| Progressive familial intrahepatic cholestasis type 3 | 2 | Aug 7, 2018 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2 | May 3, 2020 |
| Progressive myoclonic epilepsy type 3 | 2 | Apr 29, 2019 |
| Progressive myoclonic epilepsy type 8 | 1 | Apr 8, 2019 |
| Progressive myositis ossificans | 1 | Dec 18, 2017 |
| Progressive pseudorheumatoid dysplasia | 1 | Mar 5, 2018 |
| Progressive sclerosing poliodystrophy | 2 | Mar 5, 2018 |
| Progressive supranuclear ophthalmoplegia | 2 | Apr 29, 2019 |
| Prolidase deficiency | 1 | Dec 18, 2017 |
| Proline dehydrogenase deficiency | 1 | Aug 7, 2018 |
| Propionic acidemia | 3 | May 3, 2020 |
| Pseudo-Hurler polydystrophy | 1 | May 3, 2020 |
| Pseudo-TORCH syndrome 1 | 1 | Apr 8, 2019 |
| Pseudoarylsulfatase A deficiency | 1 | Aug 7, 2018 |
| Pseudohypoaldosteronism type 2C | 1 | Aug 7, 2018 |
| Pseudohypoaldosteronism type 2D | 1 | Apr 8, 2019 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 2 | Aug 7, 2018 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 | Aug 7, 2018 |
| Pulmonary hypertension, primary, 3 | 1 | Dec 3, 2017 |
| Purine-nucleoside phosphorylase deficiency | 1 | Dec 3, 2017 |
| Pyruvate carboxylase deficiency | 2 | Apr 8, 2019 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Dec 18, 2017 |
| Pyruvate dehydrogenase E1-beta deficiency | 1 | Apr 29, 2019 |
| Pyruvate kinase deficiency of red cells | 2 | Aug 7, 2018 |
| RFT1-congenital disorder of glycosylation | 1 | Apr 29, 2019 |
| RYR1-related disorder | 4 | Apr 29, 2019 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Mar 16, 2014 |
| Rajab interstitial lung disease with brain calcifications 1 | 1 | Jul 24, 2024 |
| Recessive dystrophic epidermolysis bullosa | 1 | Jun 19, 2017 |
| Reduced muscle fiber perlecan | 1 | Aug 7, 2018 |
| Renal carnitine transport defect | 4 | Apr 22, 2024 |
| Renal hypodysplasia/aplasia 1 | 1 | May 3, 2020 |
| Renal tubular acidosis with progressive nerve deafness | 1 | Apr 29, 2019 |
| Renal tubular dysgenesis | 1 | Apr 8, 2019 |
| Renal-hepatic-pancreatic dysplasia 2 | 1 | Apr 29, 2019 |
| Retinitis pigmentosa | 2 | May 3, 2020 |
| Retinitis pigmentosa 30 | 1 | Apr 29, 2019 |
| Retinitis pigmentosa 38 | 2 | May 3, 2020 |
| Retinitis pigmentosa 41 | 1 | Apr 8, 2019 |
| Retinitis pigmentosa 68 | 1 | Aug 7, 2018 |
| Retinitis pigmentosa 7 | 1 | May 3, 2020 |
| Retinitis pigmentosa 73 | 2 | Mar 5, 2018 |
| Rett syndrome | 8 | Apr 27, 2021 |
| Rett syndrome, congenital variant | 1 | Jun 24, 2020 |
| Reynolds syndrome | 1 | Mar 5, 2018 |
| Rhizomelic chondrodysplasia punctata type 2 | 1 | Aug 7, 2018 |
| Ritscher-Schinzel syndrome 2 | 1 | Apr 29, 2019 |
| Roberts-SC phocomelia syndrome | 1 | Aug 7, 2018 |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2 | May 3, 2020 |
| Rubinstein-Taybi syndrome | 1 | Apr 8, 2019 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 4 | Aug 7, 2018 |
| SCN5A-related disorder | 1 | Aug 7, 2018 |
| SERKAL syndrome | 1 | Aug 7, 2018 |
| SHORT syndrome | 1 | Mar 5, 2018 |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 1 | Aug 7, 2018 |
| SLC35A2-congenital disorder of glycosylation | 1 | Apr 29, 2019 |
| STT3B-congenital disorder of glycosylation | 1 | Dec 18, 2017 |
| Sandhoff disease | 1 | Apr 8, 2019 |
| Schaaf-Yang syndrome | 1 | Mar 5, 2018 |
| Schinzel-Giedion syndrome | 1 | Mar 5, 2018 |
| Schizencephaly | 1 | Mar 5, 2018 |
| Schizophrenia 4 | 1 | Aug 7, 2018 |
| Schwannomatosis 1 | 1 | Apr 29, 2019 |
| Schwartz-Jampel syndrome | 5 | May 3, 2020 |
| Seckel syndrome | 1 | Aug 7, 2018 |
| Seckel syndrome 5 | 1 | Mar 5, 2018 |
| Seckel syndrome 9 | 1 | Aug 7, 2018 |
| Seizures, benign familial neonatal, 2 | 1 | Mar 5, 2018 |
| Seizures-scoliosis-macrocephaly syndrome | 2 | Apr 29, 2019 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 1 | Mar 5, 2018 |
| Severe combined immunodeficiency due to IKK2 deficiency | 1 | Apr 8, 2019 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2 | Dec 18, 2017 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | May 3, 2020 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | May 3, 2020 |
| Severe myoclonic epilepsy in infancy | 3 | May 3, 2020 |
| Severe neonatal-onset encephalopathy with microcephaly | 2 | Aug 7, 2018 |
| Shashi-Pena syndrome | 1 | Apr 8, 2019 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 | Apr 29, 2019 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 2 | May 3, 2020 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 2 | Aug 7, 2018 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | May 3, 2020 |
| Simpson-Golabi-Behmel syndrome type 1 | 1 | Aug 7, 2018 |
| Singleton-Merten syndrome 1 | 4 | Apr 29, 2019 |
| Sinoatrial node dysfunction and deafness | 2 | Apr 8, 2019 |
| Sjögren-Larsson syndrome | 2 | May 3, 2020 |
| Smith-Lemli-Opitz syndrome | 3 | May 6, 2024 |
| Smith-Magenis syndrome | 1 | Apr 8, 2019 |
| Solitary median maxillary central incisor syndrome | 1 | Mar 5, 2018 |
| Sotos syndrome | 3 | May 3, 2020 |
| Spastic ataxia 3 | 2 | Apr 29, 2019 |
| Spastic ataxia 5 | 1 | Mar 5, 2018 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 | Dec 18, 2017 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Aug 7, 2018 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 1 | Mar 5, 2018 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 2 | Aug 7, 2018 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 | Dec 3, 2017 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 2 | Apr 29, 2019 |
| Spinocerebellar ataxia 7 | 2 | Apr 29, 2019 |
| Spinocerebellar ataxia type 11 | 1 | Apr 8, 2019 |
| Spinocerebellar ataxia type 12 | 1 | Mar 5, 2018 |
| Spinocerebellar ataxia type 13 | 1 | Dec 3, 2017 |
| Spinocerebellar ataxia type 15/16 | 1 | Dec 10, 2023 |
| Spinocerebellar ataxia type 17 | 1 | Apr 8, 2019 |
| Spinocerebellar ataxia type 21 | 1 | May 3, 2020 |
| Spinocerebellar ataxia type 28 | 2 | Apr 29, 2019 |
| Spinocerebellar ataxia type 35 | 1 | Apr 29, 2019 |
| Spinocerebellar ataxia type 40 | 1 | Aug 7, 2018 |
| Spinocerebellar ataxia type 42 | 6 | Apr 29, 2019 |
| Spinocerebellar ataxia type 5 | 2 | May 3, 2020 |
| Spinocerebellar ataxia type 6 | 3 | Apr 29, 2019 |
| Spinocerebellar ataxia, autosomal recessive 26 | 1 | Mar 5, 2018 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2 | Apr 29, 2019 |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 2 | Aug 7, 2018 |
| Spondyloepiphyseal dysplasia congenita | 1 | Apr 8, 2019 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 2 | May 3, 2020 |
| Spongy degeneration of central nervous system | 3 | May 3, 2020 |
| Sporadic porphyria cutanea tarda | 1 | May 3, 2020 |
| Steinert myotonic dystrophy syndrome | 4 | Feb 6, 2021 |
| Stiff skin syndrome | 1 | Mar 5, 2018 |
| Stuttering, familial persistent, 1 | 1 | Mar 5, 2018 |
| Stuve-Wiedemann syndrome | 1 | Aug 7, 2018 |
| Succinate-semialdehyde dehydrogenase deficiency | 2 | Aug 7, 2018 |
| Sucrase-isomaltase deficiency | 1 | Apr 29, 2019 |
| Sulfite oxidase deficiency | 1 | Apr 29, 2019 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2 | Apr 8, 2019 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 2 | Aug 7, 2018 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 2 | Aug 7, 2018 |
| Syndromic X-linked intellectual disability 94 | 1 | Apr 29, 2019 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 | Oct 7, 2023 |
| Syndromic X-linked intellectual disability Hedera type | 1 | Apr 22, 2024 |
| Syndromic X-linked intellectual disability Najm type | 1 | Apr 29, 2019 |
| Syndromic X-linked intellectual disability Shashi type | 1 | May 3, 2020 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Mar 5, 2018 |
| Syndromic X-linked intellectual disability Snyder type | 1 | May 3, 2020 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Apr 29, 2019 |
| TFRC-related combined immunodeficiency | 1 | Aug 7, 2018 |
| TREX1-related disorder | 1 | Oct 9, 2023 |
| TTN-related disorder | 6 | Feb 12, 2024 |
| Tangier disease | 1 | Mar 5, 2018 |
| Tay-Sachs disease | 5 | May 3, 2020 |
| Temple-Baraitser syndrome | 1 | Aug 7, 2018 |
| Temtamy preaxial brachydactyly syndrome | 1 | Mar 5, 2018 |
| Terminal osseous dysplasia-pigmentary defects syndrome | 1 | Mar 5, 2018 |
| Tetralogy of Fallot | 1 | Dec 18, 2017 |
| Thiel-Behnke corneal dystrophy | 2 | Aug 7, 2018 |
| Thrombocytopenia 2 | 1 | Aug 7, 2018 |
| Thyroid dyshormonogenesis 6 | 1 | Apr 29, 2019 |
| Timothy syndrome | 1 | Aug 7, 2018 |
| Townes-Brocks syndrome 1 | 1 | Dec 18, 2017 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 2 | May 6, 2024 |
| Transketolase deficiency | 1 | May 6, 2024 |
| Transposition of the great arteries, dextro-looped | 1 | Dec 3, 2017 |
| Treacher Collins syndrome 1 | 1 | Dec 18, 2017 |
| Treacher Collins syndrome 3 | 1 | Mar 5, 2018 |
| Trichorhinophalangeal dysplasia type I | 1 | Dec 18, 2017 |
| Trichothiodystrophy | 1 | Apr 8, 2019 |
| Trichothiodystrophy 1, photosensitive | 1 | Mar 5, 2018 |
| Trichothiodystrophy 2, photosensitive | 1 | May 6, 2024 |
| Trichothiodystrophy 3, photosensitive | 1 | Aug 7, 2018 |
| Trichothiodystrophy 4, nonphotosensitive | 1 | Mar 5, 2018 |
| Triglyceride storage disease with ichthyosis | 1 | Aug 7, 2018 |
| Trigonocephaly 2 | 1 | Mar 5, 2018 |
| Triosephosphate isomerase deficiency | 1 | Apr 8, 2019 |
| Troyer syndrome | 1 | May 3, 2020 |
| Tuberous sclerosis 1 | 1 | Dec 18, 2017 |
| Tuberous sclerosis 2 | 2 | Aug 7, 2018 |
| Type 2 diabetes mellitus | 4 | Dec 10, 2023 |
| Tyrosinemia type I | 2 | Apr 8, 2019 |
| Tyrosinemia type III | 1 | Aug 7, 2018 |
| USH2A-related disorder | 1 | Apr 29, 2019 |
| Ullrich congenital muscular dystrophy | 3 | Apr 29, 2019 |
| Ullrich congenital muscular dystrophy 1A | 7 | May 3, 2020 |
| Ullrich congenital muscular dystrophy 2 | 2 | May 3, 2020 |
| Urocanate hydratase deficiency | 1 | Apr 29, 2019 |
| Urofacial syndrome 2 | 2 | Mar 5, 2018 |
| Usher syndrome type 1 | 2 | Mar 5, 2018 |
| Usher syndrome type 1C | 2 | Apr 29, 2019 |
| Usher syndrome type 1D | 4 | May 3, 2020 |
| Usher syndrome type 1F | 1 | Aug 7, 2018 |
| Usher syndrome type 2A | 2 | May 6, 2024 |
| Usher syndrome type 2C | 2 | Apr 8, 2019 |
| Van Maldergem syndrome 1 | 1 | Aug 7, 2018 |
| Van Maldergem syndrome 2 | 2 | Aug 7, 2018 |
| Vanishing white matter disease | 3 | May 3, 2020 |
| Variegate porphyria | 1 | May 3, 2020 |
| Vasculitis due to ADA2 deficiency | 1 | Mar 5, 2018 |
| Ventricular fibrillation, paroxysmal familial, type 1 | 1 | Aug 7, 2018 |
| Vesicoureteral reflux | 1 | Dec 18, 2017 |
| Vici syndrome | 1 | Mar 5, 2018 |
| Vitamin D-dependent rickets type II with alopecia | 1 | Apr 22, 2024 |
| Vitamin D-dependent rickets, type 1 | 1 | May 3, 2020 |
| WDR35-related disorder | 1 | Apr 8, 2019 |
| WFS1-Related Spectrum Disorders | 1 | Dec 3, 2017 |
| Waardenburg syndrome type 2A | 1 | Aug 7, 2018 |
| Warburg micro syndrome 1 | 1 | Dec 3, 2017 |
| Warsaw breakage syndrome | 2 | May 3, 2020 |
| Wieacker-Wolff syndrome | 1 | May 3, 2020 |
| Wiedemann-Steiner syndrome | 5 | Jan 9, 2024 |
| Wilson disease | 5 | Apr 13, 2024 |
| X-linked Alport syndrome | 1 | Apr 29, 2019 |
| X-linked Opitz G/BBB syndrome | 1 | Dec 18, 2017 |
| X-linked chondrodysplasia punctata 1 | 1 | Dec 3, 2017 |
| X-linked complicated corpus callosum dysgenesis | 1 | Aug 7, 2018 |
| X-linked cone-rod dystrophy 3 | 1 | Aug 7, 2018 |
| X-linked hydrocephalus syndrome | 1 | Aug 7, 2018 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Apr 29, 2019 |
| X-linked intellectual disability, Stocco dos Santos type | 4 | Apr 29, 2019 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 2 | Apr 8, 2019 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Dec 18, 2017 |
| X-linked myopathy with postural muscle atrophy | 2 | Mar 5, 2018 |
| X-linked progressive cerebellar ataxia | 1 | Apr 29, 2019 |
| X-linked reticulate pigmentary disorder | 2 | Aug 7, 2018 |
| Xeroderma pigmentosum, group D | 1 | Mar 5, 2018 |
| Xeroderma pigmentosum-Cockayne syndrome complex | 1 | Dec 18, 2017 |
| Yunis-Varon syndrome | 2 | Apr 29, 2019 |
| ZTTK syndrome | 1 | Apr 8, 2019 |
| Zimmermann-Laband syndrome 1 | 1 | Aug 7, 2018 |
| alpha Thalassemia | 2 | May 3, 2020 |
| autosomal recessive PIEZO2 associated disease | 1 | Aug 7, 2018 |
| beta Thalassemia | 5 | May 3, 2020 |
| not provided | 202 | Apr 23, 2024 |
| not specified | 162 | Sep 16, 2024 |
