| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 | Apr 14, 2022 |
| 3-methylglutaconic aciduria type 9 | 1 | Nov 14, 2022 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Nov 3, 2022 |
| 5q14.3 microdeletion syndrome | 1 | Jan 18, 2022 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Jan 18, 2022 |
| ABCA4-Related Disorders | 2 | Jun 15, 2022 |
| ABCB4-Related Intrahepatic Cholestasis | 1 | Feb 14, 2022 |
| Abnormal facial shape | 1 | Oct 15, 2021 |
| Achondroplasia | 2 | Feb 14, 2022 |
| Adrenoleukodystrophy | 1 | Mar 28, 2022 |
| Aicardi-Goutieres syndrome 2 | 2 | Nov 3, 2022 |
| Aicardi-Goutieres syndrome 4 | 1 | Aug 25, 2022 |
| Al-Gazali syndrome | 1 | Feb 7, 2022 |
| Alexander disease | 2 | Jun 15, 2022 |
| Alpha-1-antitrypsin deficiency | 1 | Jan 18, 2022 |
| Alport syndrome | 2 | Jun 15, 2022 |
| Alstrom syndrome | 1 | Apr 14, 2022 |
| Angelman syndrome | 1 | Feb 14, 2022 |
| Argininosuccinate lyase deficiency | 2 | Mar 28, 2022 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Jan 18, 2022 |
| Arthrogryposis multiplex congenita 6 | 1 | Feb 14, 2022 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Apr 14, 2022 |
| Ataxia-telangiectasia syndrome | 5 | Apr 11, 2022 |
| Atelosteogenesis type II | 1 | Jan 18, 2022 |
| Atypical behavior | 1 | Oct 15, 2021 |
| Autosomal dominant Kenny-Caffey syndrome | 1 | Feb 14, 2022 |
| Autosomal dominant hypophosphatemic rickets | 1 | Apr 14, 2022 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Feb 14, 2022 |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 | Apr 11, 2022 |
| Autosomal dominant osteopetrosis 2 | 1 | Mar 28, 2022 |
| Autosomal recessive brachyolmia | 1 | Apr 14, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Jan 18, 2022 |
| Autosomal recessive nonsyndromic hearing loss 1A | 3 | Jan 18, 2022 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Apr 11, 2022 |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 | Feb 7, 2022 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Nov 3, 2022 |
| Autosomal recessive osteopetrosis 1 | 1 | Feb 7, 2022 |
| BNAR syndrome | 1 | Feb 14, 2022 |
| BRCA2-Related Disorders | 13 | Aug 25, 2022 |
| BRIP1-Related Disorders | 1 | Apr 14, 2022 |
| Baller-Gerold syndrome | 1 | Aug 25, 2022 |
| Biotinidase deficiency | 3 | Feb 14, 2022 |
| Birk-Barel syndrome | 1 | Jun 15, 2022 |
| Bloom syndrome | 1 | Apr 1, 2022 |
| Branchiootorenal syndrome 1 | 1 | Jan 18, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 12 | Apr 11, 2022 |
| Bronchiectasis with or without elevated sweat chloride 1 | 1 | Apr 1, 2022 |
| Bronchiectasis with or without elevated sweat chloride 2 | 1 | Nov 3, 2022 |
| Brugada syndrome 9 | 1 | Jun 15, 2022 |
| CAPN3-Related Disorders | 4 | Apr 1, 2022 |
| CHARGE association | 2 | Feb 7, 2022 |
| CHEK2-Related Cancer Susceptibility | 4 | Apr 14, 2022 |
| Cardiofaciocutaneous syndrome 3 | 2 | Mar 28, 2022 |
| Carotid intimal medial thickness 1 | 1 | Feb 14, 2022 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 5 | Apr 1, 2022 |
| Cerebral creatine deficiency syndrome | 1 | Jan 18, 2022 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Feb 14, 2022 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Nov 14, 2022 |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 | Feb 7, 2022 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | Jun 15, 2022 |
| Charcot-Marie-Tooth disease type 2 | 1 | Nov 14, 2022 |
| Charcot-Marie-Tooth disease type 4A | 1 | Feb 7, 2022 |
| Charcot-Marie-Tooth disease type 4K | 1 | Jan 18, 2022 |
| Charlevoix-Saguenay spastic ataxia | 1 | Apr 1, 2022 |
| Cholestanol storage disease | 1 | Jan 18, 2022 |
| Ciliary dyskinesia, primary, 38 | 1 | Apr 11, 2022 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 4 | Apr 1, 2022 |
| Classic homocystinuria | 1 | Jan 18, 2022 |
| Cleft palate, proliferative retinopathy, and developmental delay | 1 | Apr 14, 2022 |
| Cobalamin C disease | 2 | Apr 1, 2022 |
| Cockayne syndrome type 1 | 1 | Jan 18, 2022 |
| Collagen 6-related myopathy | 1 | Jan 18, 2022 |
| Combined immunodeficiency due to STK4 deficiency | 1 | Nov 3, 2022 |
| Combined oxidative phosphorylation defect type 15 | 3 | Jun 15, 2022 |
| Combined oxidative phosphorylation defect type 20 | 1 | Jun 15, 2022 |
| Combined oxidative phosphorylation deficiency 55 | 1 | Apr 14, 2022 |
| Complement component 7 deficiency | 1 | Nov 14, 2022 |
| Congenital Muscular Dystrophy, LAMA2-related | 1 | Aug 25, 2022 |
| Congenital disorder of glycosylation type I | 1 | Jun 15, 2022 |
| Congenital disorder of glycosylation, type IIw | 1 | Aug 25, 2022 |
| Congenital dyserythropoietic anemia, type II | 1 | Apr 1, 2022 |
| Congenital generalized lipodystrophy type 1 | 1 | Feb 7, 2022 |
| Congenital isolated adrenocorticotropic hormone deficiency | 1 | Apr 14, 2022 |
| Congenital myopathy with fiber type disproportion | 1 | Jan 18, 2022 |
| Congenital myotonia, autosomal dominant form | 3 | Feb 7, 2022 |
| Cornelia de Lange syndrome 1 | 1 | Jan 18, 2022 |
| Cowden syndrome 1 | 3 | Apr 14, 2022 |
| Craniosynostosis syndrome | 1 | Oct 15, 2021 |
| Creatine transporter deficiency | 1 | Nov 3, 2022 |
| Cystic fibrosis | 6 | Apr 1, 2022 |
| Cystinuria | 1 | Feb 7, 2022 |
| DLD-Related Disorders | 1 | Jan 18, 2022 |
| Deafness | 2 | Nov 5, 2021 |
| Deeah syndrome | 1 | Jan 18, 2022 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 3 | Jun 15, 2022 |
| Deficiency of alpha-mannosidase | 1 | Jun 15, 2022 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Jan 18, 2022 |
| Deficiency of butyryl-CoA dehydrogenase | 1 | Feb 7, 2022 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Apr 1, 2022 |
| Dentinogenesis imperfecta type 3 | 1 | Feb 7, 2022 |
| Developmental and epileptic encephalopathy 94 | 1 | Jan 18, 2022 |
| Developmental and epileptic encephalopathy, 1 | 1 | Jan 18, 2022 |
| Developmental and epileptic encephalopathy, 11 | 1 | Nov 3, 2022 |
| Developmental and epileptic encephalopathy, 18 | 1 | Nov 14, 2022 |
| Developmental and epileptic encephalopathy, 31 | 3 | Jun 15, 2022 |
| Developmental and epileptic encephalopathy, 35 | 1 | Feb 7, 2022 |
| Developmental and epileptic encephalopathy, 4 | 2 | Jun 15, 2022 |
| Developmental and epileptic encephalopathy, 55 | 2 | Aug 25, 2022 |
| Developmental and epileptic encephalopathy, 7 | 1 | Mar 28, 2022 |
| Developmental malformations-deafness-dystonia syndrome | 1 | Jan 18, 2022 |
| Diabetes insipidus | 1 | Mar 28, 2022 |
| Dihydropyrimidinase deficiency | 1 | Jun 15, 2022 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | Apr 14, 2022 |
| Dilated cardiomyopathy 1HH | 1 | Nov 3, 2022 |
| Distal arthrogryposis type 5D | 1 | Jan 18, 2022 |
| Dopa-responsive dystonia | 1 | Jun 15, 2022 |
| Dyskeratosis congenita, X-linked | 1 | Feb 7, 2022 |
| EBF3-related disorder | 1 | Apr 14, 2022 |
| ERCC6-Related Disorders | 1 | Apr 14, 2022 |
| Ehlers-Danlos syndrome, arthrochalasia type | 1 | Feb 7, 2022 |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 | Feb 14, 2022 |
| Ehlers-Danlos syndrome, type 4 | 1 | Feb 14, 2022 |
| Eichsfeld type congenital muscular dystrophy | 1 | Jan 18, 2022 |
| Ellis-van Creveld syndrome | 1 | Jan 18, 2022 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Jan 18, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 1 | Feb 7, 2022 |
| Episodic kinesigenic dyskinesia 1 | 1 | Jan 18, 2022 |
| FGFR2-related craniosynostosis | 2 | Jan 18, 2022 |
| FGFR3-related chondrodysplasia | 1 | Apr 1, 2022 |
| FIG4-Related Disorders | 1 | Jan 18, 2022 |
| FLNA related disorders | 1 | Jan 18, 2022 |
| FLNB-Related Spectrum Disorders | 1 | Nov 3, 2022 |
| FOXG1 disorder | 1 | Feb 7, 2022 |
| Factor I deficiency | 1 | Aug 25, 2022 |
| Familial amyloid neuropathy | 2 | Jan 18, 2022 |
| Familial aplasia of the vermis | 1 | Apr 1, 2022 |
| Familial cancer of breast | 1 | Aug 25, 2022 |
| Familial colorectal cancer | 2 | Apr 11, 2022 |
| Familial hemophagocytic lymphohistiocytosis 3 | 1 | Nov 3, 2022 |
| Familial hypercholesterolemia | 2 | Feb 14, 2022 |
| Familial hypokalemia-hypomagnesemia | 4 | Feb 7, 2022 |
| Familial hypoparathyroidism | 1 | Apr 14, 2022 |
| Familial spontaneous pneumothorax | 1 | Apr 1, 2022 |
| Fanconi anemia complementation group C | 1 | Apr 11, 2022 |
| Fanconi anemia complementation group D2 | 1 | Apr 11, 2022 |
| Fanconi anemia complementation group N | 1 | Jan 18, 2022 |
| Fanconi anemia complementation group P | 1 | Nov 14, 2022 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Feb 7, 2022 |
| Finnish congenital nephrotic syndrome | 1 | Jun 15, 2022 |
| Fleck corneal dystrophy | 1 | Nov 14, 2022 |
| Focal segmental glomerulosclerosis 7 | 1 | Jan 18, 2022 |
| Focal-onset seizure | 1 | Nov 5, 2021 |
| Frontotemporal lobar degeneration, TARDBP-related | 1 | Mar 28, 2022 |
| GLB1-Related Disorders | 1 | Jan 18, 2022 |
| Galloway-Mowat syndrome 1 | 1 | Apr 1, 2022 |
| Gaucher disease | 1 | Apr 1, 2022 |
| Gaucher disease type I | 1 | Mar 28, 2022 |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 | Apr 1, 2022 |
| Generalized epilepsy with febrile seizures plus, type 7 | 1 | Feb 14, 2022 |
| Global developmental delay with or without impaired intellectual development | 1 | Apr 11, 2022 |
| Glutaric acidemia IIc | 1 | Jun 15, 2022 |
| Glycogen storage disease type 1 due to SLC37A4 mutation | 1 | Jan 18, 2022 |
| Glycogen storage disease type III | 3 | Feb 14, 2022 |
| Glycogen storage disease type X | 1 | Jan 18, 2022 |
| Glycogen storage disease, type II | 4 | Jan 18, 2022 |
| Glycogen storage disease, type V | 3 | Jun 15, 2022 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 1 | Apr 11, 2022 |
| HBB-Related Disorders | 1 | Apr 1, 2022 |
| Heinz body anemia | 2 | Apr 14, 2022 |
| Hemochromatosis type 4 | 1 | Mar 28, 2022 |
| Hereditary diffuse leukoencephalopathy with spheroids | 1 | Apr 1, 2022 |
| Hereditary factor XI deficiency disease | 1 | Nov 3, 2022 |
| Hereditary hemochromatosis | 2 | Jan 18, 2022 |
| Hereditary spastic paraplegia 11 | 1 | Jan 18, 2022 |
| Hereditary spastic paraplegia 15 | 1 | Apr 1, 2022 |
| Hereditary spastic paraplegia 30 | 1 | Jan 18, 2022 |
| Hereditary spastic paraplegia 4 | 3 | Mar 28, 2022 |
| Hereditary spastic paraplegia 47 | 1 | Nov 3, 2022 |
| Hereditary spastic paraplegia 49 | 1 | Feb 7, 2022 |
| Hereditary spastic paraplegia 50 | 1 | Mar 28, 2022 |
| Hereditary spastic paraplegia 7 | 2 | Jan 18, 2022 |
| Hereditary spastic paraplegia 8 | 1 | Nov 14, 2022 |
| Hermansky-Pudlak syndrome 6 | 1 | Apr 14, 2022 |
| Hutchinson-Gilford syndrome | 1 | Feb 14, 2022 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 1 | Apr 14, 2022 |
| Hypercholesterolemia, familial, 1 | 1 | Feb 7, 2022 |
| Hyperekplexia 3 | 1 | Jan 18, 2022 |
| Hyperlipidemia, familial combined, LPL related | 2 | Feb 14, 2022 |
| Hyperlipoproteinemia, type I | 5 | Jan 18, 2022 |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 1 | Jan 18, 2022 |
| Hypertriglyceridemia 1 | 1 | Feb 14, 2022 |
| Hypertrophic cardiomyopathy 26 | 2 | Nov 3, 2022 |
| Hypoceruloplasminemia | 1 | Feb 14, 2022 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Jun 15, 2022 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Jan 18, 2022 |
| Hypokalemic periodic paralysis, type 1 | 2 | Jan 18, 2022 |
| Hypokalemic periodic paralysis, type 2 | 1 | Apr 1, 2022 |
| Hypophosphatasia | 2 | Apr 1, 2022 |
| Ichthyosis vulgaris | 2 | Nov 3, 2022 |
| Immunodeficiency 104 | 1 | Jun 15, 2022 |
| Infantile cortical hyperostosis | 1 | Mar 28, 2022 |
| Inherited Creutzfeldt-Jakob disease | 1 | Jan 18, 2022 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Jan 18, 2022 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Nov 14, 2022 |
| Intellectual developmental disorder, X-linked, syndromic 16 | 1 | Mar 28, 2022 |
| Intellectual developmental disorder, autosomal dominant 64 | 2 | Jan 18, 2022 |
| Intellectual disability | 1 | Oct 15, 2021 |
| Intellectual disability, X-linked 102 | 1 | Jan 18, 2022 |
| Intellectual disability, autosomal dominant 5 | 1 | Nov 14, 2022 |
| Intellectual disability, autosomal dominant 54 | 1 | Feb 14, 2022 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2 | Apr 1, 2022 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Jan 18, 2022 |
| Isovaleryl-CoA dehydrogenase deficiency | 1 | Jan 18, 2022 |
| Joubert syndrome 13 | 1 | Nov 3, 2022 |
| Joubert syndrome 17 | 1 | Jan 18, 2022 |
| Joubert syndrome 21 | 1 | Nov 3, 2022 |
| Joubert syndrome 25 | 1 | Nov 3, 2022 |
| Joubert syndrome 26 | 1 | Nov 3, 2022 |
| Juvenile polyposis syndrome | 1 | Jan 18, 2022 |
| KBG syndrome | 1 | Jan 18, 2022 |
| KCNQ1-Related Disorders | 2 | Nov 3, 2022 |
| KCNQ2-Related Disorders | 1 | Feb 14, 2022 |
| KCNT2-related condition | 1 | Feb 7, 2022 |
| Kabuki syndrome 1 | 1 | Jan 18, 2022 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 | Jan 18, 2022 |
| Knobloch syndrome | 2 | Apr 1, 2022 |
| Kohlschutter-Tonz syndrome-like | 1 | Feb 14, 2022 |
| Lafora disease | 1 | Apr 1, 2022 |
| Leber congenital amaurosis 13 | 1 | Jan 18, 2022 |
| Leukodystrophy, hypomyelinating, 16 | 1 | Jan 18, 2022 |
| Lewy body dementia | 1 | Feb 7, 2022 |
| Li-Fraumeni syndrome 1 | 1 | Feb 14, 2022 |
| Limb-girdle muscular dystrophy | 1 | Nov 5, 2021 |
| Lipase deficiency, combined | 1 | Feb 14, 2022 |
| Lipoic acid synthetase deficiency | 1 | Nov 3, 2022 |
| Lissencephaly 8 | 1 | Feb 7, 2022 |
| Long QT syndrome 2 | 1 | Jun 15, 2022 |
| Lynch syndrome | 2 | Apr 11, 2022 |
| Lynch syndrome 5 | 1 | Aug 25, 2022 |
| MASA syndrome | 1 | Nov 3, 2022 |
| MEND syndrome | 1 | Feb 7, 2022 |
| MVK-Related Disorders | 2 | Jun 15, 2022 |
| MYBPC3-Related Disorders | 2 | Apr 1, 2022 |
| MYH3-Related Disorders | 1 | Apr 1, 2022 |
| MYH7-Related Disorders | 1 | Jan 18, 2022 |
| MYH9-related disorder | 1 | Apr 1, 2022 |
| Macrocephaly-autism syndrome | 1 | Feb 14, 2022 |
| Maple syrup urine disease type 2 | 1 | Nov 3, 2022 |
| Marfan syndrome | 8 | Nov 3, 2022 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | Feb 14, 2022 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 1 | Jun 15, 2022 |
| Microcephaly 6, primary, autosomal recessive | 2 | Nov 3, 2022 |
| Microcephaly and chorioretinopathy 1 | 1 | Nov 3, 2022 |
| Microcephaly, normal intelligence and immunodeficiency | 1 | Apr 1, 2022 |
| Microcephaly, seizures, and developmental delay | 2 | Feb 7, 2022 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 | Nov 3, 2022 |
| Migraine, familial hemiplegic, 3 | 3 | Apr 14, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 29 | 1 | Feb 7, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 1 | Jun 15, 2022 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Jan 18, 2022 |
| Mitochondrial complex III deficiency nuclear type 1 | 1 | Nov 3, 2022 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 1 | Apr 1, 2022 |
| Mucopolysaccharidosis, MPS-II | 1 | Feb 14, 2022 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Feb 14, 2022 |
| Mucopolysaccharidosis, MPS-III-B | 1 | Mar 28, 2022 |
| Mullegama-Klein-Martinez syndrome | 1 | Jan 18, 2022 |
| Multiple endocrine neoplasia, type 1 | 1 | Feb 14, 2022 |
| Multiple epiphyseal dysplasia, Al-Gazali type | 1 | Apr 1, 2022 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Jan 18, 2022 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 1 | Jan 18, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 1 | Jan 18, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 | Feb 14, 2022 |
| Myasthenic syndrome, slow-channel congenital | 2 | Jan 18, 2022 |
| Myoclonic dystonia 11 | 1 | Apr 1, 2022 |
| Myopathy | 1 | Nov 5, 2021 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Nov 14, 2022 |
| Myopia 6 | 1 | Nov 3, 2022 |
| NPHP3-related Meckel-like syndrome | 1 | Feb 14, 2022 |
| Nemaline myopathy 2 | 1 | Apr 11, 2022 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 2 | Feb 14, 2022 |
| Neonatal-onset encephalopathy with rigidity and seizures | 2 | Nov 5, 2021 |
| Neurodegeneration with ataxia and late-onset optic atrophy | 2 | Feb 14, 2022 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | Feb 7, 2022 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 1 | Nov 3, 2022 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 1 | Aug 25, 2022 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 1 | Aug 25, 2022 |
| Neurofibromatosis, type 1 | 8 | Nov 3, 2022 |
| Neuronal ceroid lipofuscinosis 3 | 1 | Feb 7, 2022 |
| Neuronopathy, distal hereditary motor, autosomal dominant 1 | 1 | Jan 18, 2022 |
| Neuronopathy, distal hereditary motor, type 5C | 1 | Nov 3, 2022 |
| Neuropathy, congenital hypomyelinating, 3 | 1 | Jan 18, 2022 |
| Neutral 1 amino acid transport defect | 1 | Jan 18, 2022 |
| Niemann-Pick disease, type B | 1 | Feb 7, 2022 |
| Niemann-Pick disease, type C1 | 1 | Apr 1, 2022 |
| Nijmegen breakage syndrome-like disorder | 1 | Nov 3, 2022 |
| Non-ketotic hyperglycinemia | 1 | Feb 7, 2022 |
| Noonan syndrome | 4 | Apr 1, 2022 |
| Noonan syndrome 1 | 5 | Jan 18, 2022 |
| Noonan syndrome 3 | 2 | Mar 28, 2022 |
| Noonan syndrome 4 | 2 | Jun 15, 2022 |
| Noonan syndrome 5 | 1 | Mar 28, 2022 |
| Noonan syndrome 7 | 1 | Jun 15, 2022 |
| Normal pressure hydrocephalus | 1 | Apr 1, 2022 |
| Obesity | 1 | Feb 7, 2022 |
| Occipital pachygyria and polymicrogyria | 1 | Nov 3, 2022 |
| Opsismodysplasia | 2 | Feb 7, 2022 |
| Ornithine carbamoyltransferase deficiency | 1 | Jan 18, 2022 |
| Osteogenesis imperfecta | 3 | Apr 11, 2022 |
| Osteogenesis imperfecta type 8 | 1 | Nov 3, 2022 |
| Osteogenesis imperfecta type 9 | 1 | Apr 1, 2022 |
| Osteopathia striata with cranial sclerosis | 1 | Jan 18, 2022 |
| PALB2-Related Disorders | 1 | Apr 1, 2022 |
| PHARC syndrome | 1 | Jan 18, 2022 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2 | Nov 3, 2022 |
| PMM2-congenital disorder of glycosylation | 1 | Apr 1, 2022 |
| POLG-Related Spectrum Disorders | 2 | Apr 1, 2022 |
| POLG-related disorder | 2 | Jan 18, 2022 |
| PURA Syndrome | 1 | Feb 14, 2022 |
| Pelger-Huët anomaly | 1 | Apr 14, 2022 |
| Permanent neonatal diabetes mellitus | 1 | Feb 7, 2022 |
| Phelan-McDermid syndrome | 1 | Jan 18, 2022 |
| Phenylketonuria | 2 | Jun 15, 2022 |
| Pigmentary retinal dystrophy | 1 | Jan 18, 2022 |
| Pigmented paravenous retinochoroidal atrophy | 1 | Feb 14, 2022 |
| Polycystic kidney disease 2 | 1 | Apr 1, 2022 |
| Polycystic liver disease 1 | 2 | Apr 1, 2022 |
| Polyglandular autoimmune syndrome, type 1 | 2 | Feb 14, 2022 |
| Pontocerebellar hypoplasia type 1B | 1 | Jan 18, 2022 |
| Pontocerebellar hypoplasia type 6 | 1 | Nov 3, 2022 |
| Primary ciliary dyskinesia 20 | 1 | Nov 14, 2022 |
| Primary ciliary dyskinesia 3 | 5 | Nov 14, 2022 |
| Primary ciliary dyskinesia 5 | 1 | Apr 1, 2022 |
| Progressive myositis ossificans | 1 | Apr 1, 2022 |
| Progressive scapulohumeroperoneal distal myopathy | 1 | Jan 18, 2022 |
| Propionic acidemia | 2 | Apr 14, 2022 |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 | Jan 18, 2022 |
| Pseudohypoparathyroidism type I A | 1 | Jan 18, 2022 |
| Pseudoxanthoma elasticum, forme fruste | 1 | Nov 3, 2022 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 1 | Nov 14, 2022 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Jan 18, 2022 |
| RBBP8-Related Disorders | 1 | Nov 14, 2022 |
| RPE65-Related Disorders | 1 | Jun 15, 2022 |
| RYR1-Related Disorders | 2 | Jun 15, 2022 |
| Retinitis pigmentosa 12 | 1 | Feb 7, 2022 |
| Retinitis pigmentosa 49 | 1 | Nov 3, 2022 |
| Retinitis pigmentosa and erythrocytic microcytosis | 1 | Aug 25, 2022 |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 1 | Jan 18, 2022 |
| Rett syndrome | 6 | Apr 1, 2022 |
| Rhizomelic limb shortening with dysmorphic features | 1 | Jan 18, 2022 |
| SCN5A-Related Disorders | 2 | Feb 7, 2022 |
| SDHB-Related Disorders | 2 | Feb 14, 2022 |
| SLC26A2-Related Disorders | 1 | Jan 18, 2022 |
| Schuurs-Hoeijmakers syndrome | 1 | Jun 15, 2022 |
| Schwannomatosis 2 | 1 | Feb 7, 2022 |
| Seckel syndrome 1 | 1 | Nov 14, 2022 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Nov 3, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Nov 3, 2022 |
| Severe myoclonic epilepsy in infancy | 1 | Jun 15, 2022 |
| Short stature | 1 | Oct 15, 2021 |
| Short stature due to growth hormone secretagogue receptor deficiency | 1 | Feb 7, 2022 |
| Short-rib thoracic dysplasia 18 with polydactyly | 1 | Nov 14, 2022 |
| Sialic acid storage disease, severe infantile type | 1 | Nov 3, 2022 |
| Sick sinus syndrome 1 | 1 | Feb 14, 2022 |
| Sjögren-Larsson syndrome | 1 | Feb 14, 2022 |
| Smith-Lemli-Opitz syndrome | 3 | Jun 15, 2022 |
| Sotos syndrome | 3 | Apr 1, 2022 |
| Spastic ataxia 1 | 1 | Aug 25, 2022 |
| Spastic paraplegia | 1 | Oct 15, 2021 |
| Spastic paraplegia 84, autosomal recessive | 1 | Apr 11, 2022 |
| Spinal muscular atrophy | 1 | Feb 7, 2022 |
| Spinal muscular atrophy with lower extremity predominance | 1 | Mar 28, 2022 |
| Spondyloepiphyseal dysplasia congenita | 1 | Apr 1, 2022 |
| Stickler syndrome type 2 | 1 | Feb 7, 2022 |
| Strabismus | 1 | Oct 15, 2021 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Aug 25, 2022 |
| Susceptibility to mononeuropathy of the median nerve, mild | 1 | Jan 18, 2022 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Feb 7, 2022 |
| TP63-Related Spectrum Disorders | 2 | Apr 11, 2022 |
| TPM2-related cap myopathy | 1 | Mar 28, 2022 |
| TRIT1 Deficiency | 1 | Feb 7, 2022 |
| TTN-Related Disorders | 1 | Feb 7, 2022 |
| Tay-Sachs disease | 2 | Jan 18, 2022 |
| Tooth agenesis, selective, 4 | 2 | Feb 14, 2022 |
| Trichohepatoenteric syndrome 2 | 1 | Apr 14, 2022 |
| Type 2 diabetes mellitus | 1 | Jun 15, 2022 |
| UDPglucose-4-epimerase deficiency | 1 | Nov 14, 2022 |
| USH2A-Related Disorders | 3 | Feb 14, 2022 |
| Usher syndrome type 2C | 1 | Apr 14, 2022 |
| Usher syndrome, type IIC, GPR98/PDZD7 digenic | 1 | Apr 1, 2022 |
| Vanishing white matter disease | 1 | Jan 18, 2022 |
| Visceral myopathy 1 | 1 | Feb 14, 2022 |
| WFS1-Related Spectrum Disorders | 2 | Apr 14, 2022 |
| Wiedemann-Steiner syndrome | 2 | Feb 14, 2022 |
| Wilson disease | 2 | Apr 1, 2022 |
