| 3-Methylglutaconic aciduria type 3 | 2 | Nov 2, 2022 |
| 3M syndrome 1 | 1 | Sep 29, 2023 |
| 3M syndrome 2 | 2 | Sep 7, 2021 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Sep 7, 2021 |
| Achondrogenesis, type IA | 1 | Oct 3, 2024 |
| Achondroplasia | 1 | Jul 8, 2022 |
| Acromicric dysplasia | 1 | Feb 11, 2022 |
| Adrenocortical carcinoma, hereditary | 1 | Feb 11, 2022 |
| Adrenoleukodystrophy | 1 | Oct 3, 2024 |
| Aicardi-Goutieres syndrome 1 | 1 | Sep 4, 2021 |
| Aicardi-Goutieres syndrome 6 | 2 | Feb 11, 2022 |
| Aicardi-Goutieres syndrome 7 | 1 | Oct 6, 2023 |
| Alacrima, achalasia, and intellectual disability syndrome | 1 | Sep 4, 2021 |
| Alkaline ceramidase 3 deficiency | 1 | Sep 7, 2021 |
| Amyotrophic lateral sclerosis type 16 | 1 | Feb 11, 2022 |
| Amyotrophic lateral sclerosis type 4 | 1 | Feb 11, 2022 |
| Argininosuccinate lyase deficiency | 1 | Feb 12, 2022 |
| Arthrogryposis | 2 | Oct 16, 2024 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Sep 4, 2021 |
| Arthrogryposis multiplex congenita 5 | 1 | Jul 8, 2022 |
| Arthrogryposis multiplex congenita 6 | 1 | Oct 5, 2024 |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 1 | Jul 8, 2022 |
| Arthrogryposis, distal, type 1A | 1 | Apr 22, 2024 |
| Arthrogryposis, distal, type 1B | 1 | Sep 4, 2021 |
| Aspartylglucosaminuria | 1 | Feb 11, 2022 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Feb 11, 2022 |
| Ataxia-telangiectasia syndrome | 2 | Feb 12, 2022 |
| Atypical glycine encephalopathy | 1 | Sep 4, 2021 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Jul 8, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Feb 11, 2022 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 | Jul 8, 2022 |
| Autosomal recessive Robinow syndrome | 1 | Jul 8, 2022 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Feb 11, 2022 |
| Autosomal recessive congenital ichthyosis 5 | 1 | Jul 8, 2022 |
| Autosomal recessive distal spinal muscular atrophy 1 | 2 | Feb 12, 2022 |
| Autosomal recessive distal spinal muscular atrophy 2 | 1 | Feb 11, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Oct 14, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Jan 21, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 3 | Jul 8, 2022 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Mar 27, 2023 |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 | Sep 7, 2021 |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 | May 29, 2021 |
| Autosomal systemic lupus erythematosus type 16 | 1 | Nov 2, 2022 |
| Axenfeld-Rieger syndrome type 3 | 1 | Oct 4, 2023 |
| Baraitser-Winter syndrome 1 | 2 | Sep 29, 2023 |
| Bardet-Biedl syndrome 14 | 3 | Feb 12, 2022 |
| Bardet-Biedl syndrome 8 | 1 | Jul 8, 2022 |
| Basal cell carcinoma, susceptibility to, 7 | 1 | Feb 11, 2022 |
| Beta-thalassemia HBB/LCRB | 1 | Mar 27, 2023 |
| Bethlem myopathy 1A | 1 | Jul 8, 2022 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Jan 6, 2023 |
| Bilateral frontoparietal polymicrogyria | 1 | Jul 8, 2022 |
| Biotinidase deficiency | 4 | Jul 8, 2022 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Feb 11, 2022 |
| Bone marrow failure syndrome 5 | 1 | Feb 11, 2022 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Sep 4, 2021 |
| COG7 congenital disorder of glycosylation | 2 | Jan 21, 2022 |
| Camptomelic dysplasia | 1 | Nov 2, 2022 |
| Carnitine palmitoyl transferase 1A deficiency | 1 | Jul 8, 2022 |
| Cataract 36 | 1 | Sep 4, 2021 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 1 | Sep 4, 2021 |
| Central core myopathy | 2 | Jul 8, 2022 |
| Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | 2 | Feb 11, 2022 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Sep 4, 2021 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Feb 11, 2022 |
| Charcot-Marie-Tooth disease axonal type 2S | 2 | Feb 12, 2022 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 1 | Jul 8, 2022 |
| Choroid plexus papilloma | 1 | Feb 11, 2022 |
| Classic homocystinuria | 1 | Jul 8, 2022 |
| Cobalamin C disease | 1 | Jan 21, 2022 |
| Coffin-Siris syndrome 1 | 1 | Jul 8, 2022 |
| Cold-induced sweating syndrome 1 | 1 | Jul 8, 2022 |
| Colorectal cancer | 1 | Feb 11, 2022 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 | Jul 8, 2022 |
| Combined oxidative phosphorylation deficiency 39 | 1 | Sep 7, 2021 |
| Combined oxidative phosphorylation deficiency 41 | 2 | May 29, 2021 |
| Complement component C1s deficiency | 1 | Jul 8, 2022 |
| Complex cortical dysplasia with other brain malformations 2 | 1 | Feb 11, 2022 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | Jul 8, 2022 |
| Cone-rod dystrophy 6 | 1 | Nov 2, 2022 |
| Congenital amegakaryocytic thrombocytopenia | 2 | Sep 28, 2023 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 | Jul 8, 2022 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Apr 22, 2024 |
| Congenital multicore myopathy with external ophthalmoplegia | 2 | Jul 8, 2022 |
| Congenital muscular dystrophy due to LMNA mutation | 1 | Feb 11, 2022 |
| Congenital myasthenic syndrome 4A | 1 | Feb 11, 2022 |
| Congenital myasthenic syndrome 4B | 1 | Feb 11, 2022 |
| Congenital myasthenic syndrome 4C | 1 | Feb 11, 2022 |
| Congenital myopathy 4A, autosomal dominant | 1 | Oct 5, 2024 |
| Cornelia de Lange syndrome 1 | 1 | Sep 29, 2023 |
| Creatine transporter deficiency | 1 | Oct 5, 2024 |
| Crigler-Najjar syndrome type 1 | 1 | Jul 8, 2022 |
| Crigler-Najjar syndrome, type II | 1 | Jul 8, 2022 |
| Cutaneous mastocytosis | 1 | Jul 8, 2022 |
| Cutis laxa, autosomal dominant 1 | 1 | Jan 21, 2022 |
| Cystic fibrosis | 6 | Sep 28, 2023 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Nov 2, 2022 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 | Jul 8, 2022 |
| Deficiency of alpha-mannosidase | 1 | Jan 6, 2023 |
| Deficiency of cytochrome-b5 reductase | 1 | Jul 8, 2022 |
| Developmental and epileptic encephalopathy 6B | 1 | Jul 8, 2022 |
| Developmental and epileptic encephalopathy 91 | 1 | Jul 8, 2022 |
| Developmental and epileptic encephalopathy, 11 | 2 | Mar 11, 2022 |
| Developmental and epileptic encephalopathy, 14 | 1 | Jul 8, 2022 |
| Developmental and epileptic encephalopathy, 2 | 1 | Mar 27, 2023 |
| Developmental and epileptic encephalopathy, 28 | 1 | Nov 2, 2022 |
| Developmental and epileptic encephalopathy, 4 | 1 | Sep 4, 2021 |
| Developmental malformations-deafness-dystonia syndrome | 1 | Jan 21, 2022 |
| Diamond-Blackfan anemia 21 | 2 | Oct 23, 2024 |
| Dilated cardiomyopathy 1A | 1 | Feb 11, 2022 |
| Dilated cardiomyopathy 1G | 1 | Sep 4, 2021 |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 1 | Feb 11, 2022 |
| Distal arthrogryposis type 5D | 4 | Oct 28, 2024 |
| Duchenne muscular dystrophy | 1 | Sep 4, 2021 |
| Early-onset generalized limb-onset dystonia | 1 | Jul 8, 2022 |
| Early-onset myopathy with fatal cardiomyopathy | 5 | Jul 8, 2022 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 1 | Sep 4, 2021 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | May 29, 2021 |
| Ectopia lentis 1, isolated, autosomal dominant | 2 | Jan 6, 2023 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 1 | Sep 28, 2023 |
| Ehlers-Danlos syndrome, musculocontractural type 1 | 1 | Sep 3, 2022 |
| Ehlers-Danlos syndrome, periodontal type 2 | 1 | Jul 8, 2022 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 | Jul 8, 2022 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Feb 11, 2022 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Sep 4, 2021 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 | Jan 21, 2022 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Feb 12, 2022 |
| Episodic ataxia, type 9 | 1 | Feb 12, 2022 |
| Factor XIII, A subunit, deficiency of | 1 | Apr 22, 2024 |
| Familial acute necrotizing encephalopathy | 1 | Jan 6, 2023 |
| Familial hypobetalipoproteinemia 1 | 1 | Sep 7, 2021 |
| Familial hypokalemia-hypomagnesemia | 1 | Mar 27, 2023 |
| Familial partial lipodystrophy, Dunnigan type | 1 | Feb 11, 2022 |
| Fanconi anemia complementation group G | 1 | Mar 27, 2023 |
| Fatal infantile hypertonic myofibrillar myopathy | 1 | Oct 6, 2023 |
| Fraser syndrome 1 | 1 | Feb 12, 2022 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Feb 11, 2022 |
| Galloway-Mowat syndrome 3 | 2 | Sep 7, 2021 |
| Galloway-Mowat syndrome 5 | 1 | Jan 21, 2022 |
| Gastrointestinal stromal tumor | 1 | Jul 8, 2022 |
| Geleophysic dysplasia 2 | 2 | Nov 2, 2022 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Jul 8, 2022 |
| Ghosal hematodiaphyseal dysplasia | 1 | Feb 8, 2024 |
| Gilbert syndrome | 1 | Jul 8, 2022 |
| Gillespie syndrome | 2 | Feb 12, 2022 |
| Glioma susceptibility 1 | 1 | Feb 11, 2022 |
| Glutaric aciduria, type 1 | 4 | Oct 4, 2024 |
| Glycogen storage disease type III | 1 | Sep 3, 2022 |
| Glycogen storage disease, type II | 2 | Sep 4, 2021 |
| Glycogen storage disease, type VI | 1 | Jan 6, 2023 |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | 1 | Jul 8, 2022 |
| Goldberg-Shprintzen syndrome | 1 | Jul 8, 2022 |
| Gorlin syndrome | 1 | Feb 11, 2022 |
| Heart-hand syndrome, Slovenian type | 1 | Feb 11, 2022 |
| Hereditary factor X deficiency disease | 1 | Feb 11, 2022 |
| Hereditary spastic paraplegia 31 | 1 | Jul 8, 2022 |
| Hereditary spastic paraplegia 4 | 1 | Jul 8, 2022 |
| Hereditary spastic paraplegia 74 | 1 | Jul 8, 2022 |
| Hereditary spherocytosis type 1 | 1 | Sep 4, 2021 |
| Hermansky-Pudlak syndrome 3 | 1 | Feb 11, 2022 |
| Holoprosencephaly 7 | 1 | Feb 11, 2022 |
| Hutchinson-Gilford syndrome | 2 | Aug 1, 2022 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 | Sep 7, 2021 |
| Hypercholesterolemia, familial, 1 | 1 | Oct 6, 2023 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | Sep 29, 2023 |
| Hyperlipoproteinemia, type I | 1 | Sep 7, 2021 |
| Hyperparathyroidism 4 | 1 | Feb 11, 2022 |
| Hyperparathyroidism, transient neonatal | 2 | Feb 8, 2024 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Sep 4, 2021 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Jan 6, 2023 |
| Hypomyelinating leukodystrophy 10 | 1 | Mar 27, 2023 |
| Hypomyelinating leukodystrophy 6 | 1 | Jul 8, 2022 |
| Hypoparathyroidism, familial isolated, 2 | 1 | Feb 11, 2022 |
| Hypotonia, ataxia, and delayed development syndrome | 2 | Jul 8, 2022 |
| Hypotrichosis 7 | 1 | Oct 5, 2024 |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 | Feb 12, 2022 |
| Ichthyosis vulgaris | 1 | Sep 4, 2021 |
| Immunodeficiency, common variable, 2 | 1 | Sep 4, 2021 |
| Intellectual developmental disorder 61 | 1 | Feb 11, 2022 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 1 | May 29, 2021 |
| Intellectual developmental disorder, autosomal dominant 72 | 1 | Oct 3, 2024 |
| Intellectual developmental disorder, autosomal recessive 72 | 1 | Sep 7, 2021 |
| Intellectual disability, X-linked 1 | 1 | May 29, 2021 |
| Intellectual disability, X-linked 102 | 1 | Feb 12, 2022 |
| Intellectual disability, X-linked 49 | 1 | Oct 4, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Sep 29, 2023 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Sep 4, 2021 |
| Intellectual disability, autosomal dominant 13 | 1 | Feb 11, 2022 |
| Intellectual disability, autosomal dominant 15 | 1 | Jul 8, 2022 |
| Intellectual disability, autosomal dominant 41 | 1 | Sep 4, 2021 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 1 | Feb 11, 2022 |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 3 | Sep 4, 2021 |
| Joubert syndrome 3 | 1 | Nov 2, 2022 |
| Joubert syndrome 37 | 1 | Oct 5, 2024 |
| Joubert syndrome 5 | 3 | Feb 12, 2022 |
| Joubert syndrome 6 | 2 | Oct 3, 2023 |
| Joubert syndrome 9 | 1 | Jan 6, 2023 |
| Juvenile retinoschisis | 1 | Jul 8, 2022 |
| LEOPARD syndrome 1 | 1 | Jul 8, 2022 |
| Lamb-Shaffer syndrome | 1 | Feb 11, 2022 |
| Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | 1 | Jul 8, 2022 |
| Lethal polymalformative syndrome, Boissel type | 1 | Feb 12, 2022 |
| Leukodystrophy, hypomyelinating, 14 | 1 | Jul 8, 2022 |
| Leukodystrophy, hypomyelinating, 18 | 1 | Sep 7, 2021 |
| Li-Fraumeni syndrome 1 | 1 | Feb 11, 2022 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Jul 8, 2022 |
| Lissencephaly due to TUBA1A mutation | 2 | Sep 3, 2022 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Feb 11, 2022 |
| Lucey-Driscoll syndrome | 1 | Jul 8, 2022 |
| Lymphatic malformation 9 | 1 | Feb 11, 2022 |
| Lysosomal acid lipase deficiency | 3 | Jan 6, 2023 |
| MASS syndrome | 1 | Feb 11, 2022 |
| MPDU1-congenital disorder of glycosylation | 1 | Jan 6, 2023 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 2 | Feb 8, 2024 |
| Malan overgrowth syndrome | 1 | Jul 8, 2022 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Jul 8, 2022 |
| Maple syrup urine disease | 1 | Jul 8, 2022 |
| Marfan syndrome | 5 | Feb 11, 2022 |
| Marshall-Smith syndrome | 1 | Jul 8, 2022 |
| Meckel syndrome, type 4 | 3 | Feb 12, 2022 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 1 | Jul 8, 2022 |
| Menke-Hennekam syndrome 2 | 1 | Sep 7, 2021 |
| Merosin deficient congenital muscular dystrophy | 2 | Sep 4, 2021 |
| Metachondromatosis | 1 | Jul 8, 2022 |
| Metachromatic leukodystrophy | 2 | Sep 7, 2021 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 | Sep 4, 2021 |
| Microcephaly, developmental delay, and brittle hair syndrome | 1 | Jul 8, 2022 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Jul 8, 2022 |
| Migraine, familial hemiplegic, 3 | 1 | Jul 8, 2022 |
| Mitochondrial DNA depletion syndrome 13 | 1 | May 29, 2021 |
| Mitochondrial DNA depletion syndrome 8a | 1 | Jul 8, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 1 | Jan 6, 2023 |
| Miyoshi muscular dystrophy 1 | 1 | Jan 21, 2022 |
| Mowat-Wilson syndrome | 1 | Jan 6, 2023 |
| Mucolipidosis type IV | 1 | Jul 8, 2022 |
| Mucopolysaccharidosis, MPS-IV-A | 1 | Sep 7, 2021 |
| Muenke syndrome | 1 | Mar 27, 2023 |
| Multiple acyl-CoA dehydrogenase deficiency | 2 | Feb 11, 2022 |
| Multiple endocrine neoplasia type 2B | 1 | Sep 7, 2021 |
| Multiple epiphyseal dysplasia type 5 | 1 | Sep 4, 2021 |
| Multiple mitochondrial dysfunctions syndrome 3 | 1 | Jul 8, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 1 | Jan 21, 2022 |
| Muscular dystrophy-dystroglycanopathy type B5 | 1 | Jan 21, 2022 |
| Myopathy, centronuclear, 5 | 1 | Sep 4, 2021 |
| Myosclerosis | 1 | Jul 8, 2022 |
| Nail-patella syndrome | 1 | Oct 3, 2024 |
| Neurodegeneration with brain iron accumulation 2B | 1 | Jan 5, 2023 |
| Neurodegeneration, infantile-onset, biotin-responsive | 1 | Feb 11, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Sep 4, 2021 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 1 | Nov 2, 2022 |
| Neurofibromatosis, type 1 | 10 | Feb 7, 2024 |
| Neurofibromatosis-Noonan syndrome | 1 | Mar 27, 2023 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Sep 7, 2021 |
| Neuronal ceroid lipofuscinosis 2 | 1 | Jan 6, 2023 |
| Neuronopathy, distal hereditary motor, type 5B | 1 | Jul 8, 2022 |
| Neurooculocardiogenitourinary syndrome | 1 | Sep 3, 2022 |
| Neuropathy, congenital hypomyelinating, 3 | 1 | Sep 4, 2021 |
| Non-ketotic hyperglycinemia | 2 | Sep 4, 2021 |
| Noonan syndrome 1 | 1 | Jul 8, 2022 |
| Orofaciodigital syndrome 17 | 2 | Jul 8, 2022 |
| Osteogenesis imperfecta type 11 | 1 | Sep 4, 2021 |
| Osteogenesis imperfecta type 13 | 1 | Sep 7, 2021 |
| Osteogenesis imperfecta type 16 | 1 | Oct 5, 2024 |
| Osteogenesis imperfecta type 6 | 1 | Jan 6, 2023 |
| Osteogenesis imperfecta type I | 1 | Sep 4, 2021 |
| Osteogenesis imperfecta type III | 1 | Jul 8, 2022 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Jul 8, 2022 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Jul 8, 2022 |
| Osteoporosis | 1 | Jul 8, 2022 |
| PERCHING syndrome | 1 | Sep 4, 2021 |
| Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 1 | Mar 27, 2023 |
| Pelizaeus-Merzbacher disease | 1 | Oct 3, 2023 |
| Peripheral motor neuropathy, childhood-onset, biotin-responsive | 1 | Mar 27, 2023 |
| Piebaldism | 1 | Jul 8, 2022 |
| Pitt-Hopkins syndrome | 1 | May 29, 2021 |
| Polycystic kidney disease 4 | 1 | Feb 8, 2024 |
| Pontocerebellar hypoplasia, type 12 | 1 | Nov 2, 2022 |
| Primary hyperoxaluria, type II | 1 | Jul 8, 2022 |
| Primary hypomagnesemia | 2 | Feb 11, 2022 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 1 | Feb 11, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 | Feb 11, 2022 |
| Progressive pseudorheumatoid dysplasia | 2 | Sep 29, 2023 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 | Feb 12, 2022 |
| Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 | Jul 8, 2022 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Sep 4, 2021 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 1 | Jul 8, 2022 |
| Retinitis pigmentosa 51 | 1 | Jul 8, 2022 |
| Rett syndrome | 4 | Nov 2, 2022 |
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 1 | Jul 8, 2022 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Sep 3, 2022 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Sep 7, 2021 |
| SRD5A3-congenital disorder of glycosylation | 1 | Mar 27, 2023 |
| See cases | 2 | Sep 30, 2023 |
| Seizures, benign familial infantile, 3 | 1 | Feb 12, 2022 |
| Senior-Loken syndrome 6 | 3 | Feb 12, 2022 |
| Severe X-linked myotubular myopathy | 1 | Jul 8, 2022 |
| Severe myoclonic epilepsy in infancy | 1 | Jul 8, 2022 |
| Short-rib thoracic dysplasia 20 with polydactyly | 2 | Jul 8, 2022 |
| Shwachman-Diamond syndrome 1 | 1 | Sep 29, 2023 |
| Spinocerebellar ataxia type 15/16 | 2 | Feb 12, 2022 |
| Spinocerebellar ataxia type 29 | 2 | Feb 12, 2022 |
| Spinocerebellar ataxia type 42 | 1 | Sep 4, 2021 |
| Spondyloepiphyseal dysplasia congenita | 1 | Sep 28, 2023 |
| Steel syndrome | 1 | Jan 21, 2022 |
| Stickler syndrome type 2 | 1 | Sep 7, 2021 |
| Stiff skin syndrome | 1 | Feb 11, 2022 |
| Stüve-Wiedemann syndrome 1 | 1 | Jul 8, 2022 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 2 | Sep 7, 2021 |
| Supravalvar aortic stenosis | 1 | Jan 21, 2022 |
| Syndromic X-linked intellectual disability Najm type | 1 | Sep 7, 2021 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | May 29, 2021 |
| Thanatophoric dysplasia type 1 | 1 | Sep 3, 2022 |
| Thyroid dyshormonogenesis 6 | 2 | Sep 3, 2022 |
| Torsion dystonia 4 | 1 | Jul 8, 2022 |
| Triosephosphate isomerase deficiency | 1 | Jan 21, 2022 |
| Tuberous sclerosis 2 | 3 | Mar 27, 2023 |
| Ullrich congenital muscular dystrophy 1A | 1 | Jul 8, 2022 |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 | Feb 12, 2022 |
| Visceral myopathy 1 | 1 | Jul 8, 2022 |
| Vitamin D-dependent rickets, type 1A | 1 | Sep 4, 2021 |
| Weill-Marchesani syndrome 2, dominant | 1 | Feb 11, 2022 |
| Wiedemann-Steiner syndrome | 1 | Sep 7, 2021 |
| Wilson disease | 2 | Sep 7, 2021 |
| Wolman disease | 1 | Oct 3, 2023 |
| X-linked Alport syndrome | 2 | Sep 28, 2023 |
| X-linked agammaglobulinemia | 2 | Nov 2, 2022 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Sep 4, 2021 |
| X-linked lissencephaly with abnormal genitalia | 1 | Sep 28, 2023 |
| X-linked severe combined immunodeficiency | 1 | Oct 6, 2023 |
| Xeroderma pigmentosum, group C | 1 | Feb 11, 2022 |
| Yunis-Varon syndrome | 1 | Sep 7, 2021 |
| beta Thalassemia | 1 | Jul 8, 2022 |
| not provided | 4 | Oct 4, 2023 |
