| 3M syndrome 1 | 1 | Apr 21, 2020 |
| 46,XX ovarian dysgenesis-short stature syndrome | 1 | Oct 4, 2021 |
| Aicardi-Goutieres syndrome 7 | 1 | Oct 5, 2021 |
| Amyloidosis, hereditary systemic 1 | 1 | Sep 28, 2021 |
| Amyotrophic lateral sclerosis type 23 | 1 | Oct 25, 2022 |
| Apnea | 1 | Jul 1, 2019 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Sep 29, 2021 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Oct 25, 2022 |
| Arthrogryposis, distal, type 1A | 1 | Aug 31, 2020 |
| Autism spectrum disorder due to AUTS2 deficiency | 2 | Oct 4, 2021 |
| Autoinflammation with episodic fever and lymphadenopathy | 1 | Oct 25, 2022 |
| Autoinflammatory syndrome | 1 | Mar 24, 2020 |
| Autosomal dominant centronuclear myopathy | 1 | Oct 8, 2021 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Nov 17, 2020 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Oct 6, 2021 |
| Autosomal recessive ataxia, Beauce type | 1 | Oct 8, 2021 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Oct 11, 2021 |
| Autosomal recessive congenital ichthyosis 4A | 2 | Mar 22, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 1 | Oct 26, 2022 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Oct 11, 2021 |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 | Oct 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 | Oct 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 | Oct 4, 2021 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Sep 30, 2021 |
| Axenfeld-Rieger syndrome type 3 | 1 | Oct 4, 2021 |
| Bartter disease type 1 | 2 | Oct 11, 2021 |
| Beta-D-mannosidosis | 1 | Nov 18, 2020 |
| Bethlem myopathy 1A | 1 | Oct 11, 2021 |
| Bethlem myopathy 2 | 1 | Oct 11, 2021 |
| Brachydactyly type A1D | 1 | Sep 30, 2021 |
| Brain small vessel disease 2A, autosomal dominant | 1 | Nov 2, 2022 |
| Brown-Vialetto-van Laere syndrome 2 | 1 | Sep 30, 2021 |
| COL1A1-related osteogenesis imperfecta | 1 | Mar 23, 2021 |
| COL7A1-related epidermolysis bullosa | 2 | Mar 4, 2021 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Sep 29, 2021 |
| Central core myopathy | 1 | Oct 18, 2022 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Sep 30, 2021 |
| Charcot-Marie-Tooth disease type 2B | 1 | Oct 4, 2022 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Oct 6, 2021 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | Sep 30, 2021 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Apr 21, 2020 |
| Cholestasis, progressive familial intrahepatic, 4 | 1 | Oct 6, 2021 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Nov 19, 2020 |
| Clark-Baraitser syndrome | 1 | Mar 3, 2021 |
| Cockayne syndrome type 1 | 2 | Feb 1, 2019 |
| Cockayne syndrome type 2 | 1 | Oct 7, 2021 |
| Coffin-Siris syndrome 6 | 1 | Oct 7, 2021 |
| Combined oxidative phosphorylation deficiency 51 | 1 | Oct 25, 2022 |
| Complement component 4b deficiency | 1 | Oct 4, 2021 |
| Congenital contractural arachnodactyly | 1 | Sep 1, 2020 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Oct 6, 2021 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Nov 19, 2020 |
| Congenital myasthenic syndrome 8 | 1 | Sep 30, 2021 |
| Congenital myopathy 23 | 1 | Aug 31, 2020 |
| Congenital myopathy with fiber type disproportion | 1 | Mar 26, 2021 |
| Costello syndrome | 1 | Oct 31, 2022 |
| Craniofacial anomalies and anterior segment dysgenesis syndrome | 1 | Jul 7, 2020 |
| Curry-Hall syndrome | 1 | Oct 6, 2021 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 | Oct 26, 2022 |
| Developmental and epileptic encephalopathy 6B | 2 | Oct 24, 2022 |
| Developmental and epileptic encephalopathy, 11 | 1 | Nov 2, 2022 |
| Developmental and epileptic encephalopathy, 13 | 1 | Nov 2, 2022 |
| Developmental and epileptic encephalopathy, 29 | 1 | Oct 4, 2021 |
| Developmental and epileptic encephalopathy, 31A | 1 | Mar 18, 2021 |
| Developmental and epileptic encephalopathy, 42 | 1 | Jun 15, 2020 |
| Developmental and epileptic encephalopathy, 54 | 1 | Oct 24, 2022 |
| Developmental and epileptic encephalopathy, 64 | 1 | Mar 18, 2021 |
| Developmental and epileptic encephalopathy, 7 | 1 | Aug 3, 2020 |
| Developmental and epileptic encephalopathy, 73 | 1 | Sep 30, 2021 |
| Developmental and epileptic encephalopathy, 80 | 1 | Oct 31, 2022 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Jul 29, 2020 |
| Developmental and epileptic encephalopathy, 9 | 1 | Mar 4, 2021 |
| Developmental cataract | 1 | Jun 25, 2021 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | Oct 24, 2022 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | Sep 1, 2020 |
| Dilated cardiomyopathy 1C | 1 | Sep 30, 2021 |
| Dilated cardiomyopathy 1E | 1 | Oct 7, 2021 |
| Dilated cardiomyopathy 1G | 1 | Sep 30, 2021 |
| Dworschak-Punetha neurodevelopmental syndrome | 1 | Oct 25, 2022 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Mar 30, 2021 |
| Eichsfeld type congenital muscular dystrophy | 1 | Mar 26, 2021 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Oct 24, 2022 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Apr 22, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 | Oct 7, 2021 |
| Epilepsy, progressive myoclonic, 12 | 1 | Oct 7, 2021 |
| Exostoses, multiple, type 1 | 1 | Jul 31, 2019 |
| Exostoses, multiple, type 2 | 1 | Mar 25, 2021 |
| FGFR3-related disorder | 1 | Aug 3, 2020 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Sep 1, 2020 |
| Familial cold autoinflammatory syndrome 2 | 1 | Oct 24, 2022 |
| Familial porphyria cutanea tarda | 1 | Sep 30, 2021 |
| Fraser syndrome 1 | 1 | Oct 25, 2022 |
| Generalized epilepsy with febrile seizures plus | 1 | Mar 26, 2021 |
| Generalized hypotonia | 1 | Jul 1, 2019 |
| Glycogen storage disease, type II | 3 | Oct 25, 2022 |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 1 | Oct 7, 2021 |
| HSD10 mitochondrial disease | 1 | Nov 2, 2022 |
| Harel-Yoon syndrome | 1 | Sep 30, 2021 |
| Hereditary sensory and autonomic neuropathy type 6 | 1 | Oct 6, 2021 |
| Hereditary spastic paraplegia 10 | 1 | Oct 4, 2022 |
| Hereditary spastic paraplegia 12 | 1 | Oct 4, 2022 |
| Hereditary spastic paraplegia 28 | 1 | Oct 6, 2021 |
| Hereditary spastic paraplegia 31 | 1 | Oct 6, 2021 |
| Hereditary spastic paraplegia 45 | 1 | Mar 25, 2021 |
| Hyperammonemia, type III | 1 | Sep 30, 2021 |
| Hypertrophic cardiomyopathy 1 | 1 | Sep 29, 2021 |
| Hypertrophic cardiomyopathy 9 | 1 | Sep 30, 2021 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Oct 4, 2021 |
| Hypohidrotic ectodermal dysplasia | 1 | Feb 8, 2019 |
| Hypoparathyroidism, familial isolated, 2 | 1 | Oct 24, 2022 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 | Oct 4, 2021 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Oct 11, 2021 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 6 | Oct 31, 2022 |
| Immunodeficiency, common variable, 2 | 1 | Mar 30, 2021 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 1 | Mar 4, 2021 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 | Oct 25, 2022 |
| Intellectual developmental disorder 60 with seizures | 1 | Oct 4, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Sep 30, 2021 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Sep 30, 2021 |
| Intellectual developmental disorder with seizures and language delay | 1 | Oct 7, 2021 |
| Intellectual developmental disorder, autosomal recessive 72 | 1 | Sep 30, 2021 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Sep 30, 2021 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Nov 19, 2020 |
| Intellectual disability, autosomal dominant 43 | 1 | Oct 11, 2021 |
| Intellectual disability, autosomal dominant 45 | 1 | Oct 11, 2021 |
| Intellectual disability, autosomal dominant 6 | 1 | Nov 17, 2020 |
| Intellectual disability, autosomal recessive 13 | 1 | Sep 1, 2020 |
| Intellectual disability, autosomal recessive 47 | 1 | Oct 4, 2021 |
| Intellectual disability, autosomal recessive 5 | 1 | Oct 4, 2021 |
| Intellectual disability, autosomal recessive 50 | 1 | Oct 4, 2021 |
| Intellectual disability, autosomal recessive 60 | 1 | Oct 4, 2021 |
| Intellectual disability, autosomal recessive 61 | 1 | Sep 30, 2021 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Sep 30, 2021 |
| Joubert syndrome 3 | 2 | Sep 1, 2020 |
| Kabuki syndrome 1 | 2 | Mar 29, 2021 |
| Kabuki syndrome 2 | 1 | Nov 19, 2020 |
| Kleefstra syndrome 1 | 1 | Sep 1, 2020 |
| Kleefstra syndrome 2 | 1 | Oct 4, 2021 |
| Koolen-de Vries syndrome | 2 | Oct 24, 2022 |
| L-2-hydroxyglutaric aciduria | 2 | Oct 8, 2021 |
| Larsen syndrome | 1 | Mar 25, 2021 |
| Leber congenital amaurosis 13 | 1 | Nov 19, 2020 |
| Leigh syndrome | 1 | Mar 4, 2021 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 2 | Oct 11, 2021 |
| Li-Fraumeni syndrome 1 | 1 | Oct 25, 2022 |
| Liang-Wang syndrome | 1 | Oct 11, 2021 |
| Limb dystonia | 1 | Jul 1, 2019 |
| Linear skin defects with multiple congenital anomalies 3 | 2 | Oct 7, 2021 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Oct 11, 2021 |
| Long QT syndrome 9 | 1 | Oct 6, 2021 |
| MEGF10-related myopathy | 1 | Sep 30, 2021 |
| MT-TK-related mitochondrial disorder | 1 | Oct 11, 2021 |
| Merosin deficient congenital muscular dystrophy | 4 | Jun 25, 2021 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 1 | Oct 5, 2021 |
| Microcephaly 20, primary, autosomal recessive | 1 | Oct 11, 2021 |
| Microcephaly and chorioretinopathy 3 | 1 | Oct 4, 2021 |
| Mitochondrial complex I deficiency, nuclear type 5 | 3 | Oct 7, 2021 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 1 | Nov 19, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 | Oct 25, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Oct 11, 2021 |
| Myasthenic syndrome, congenital, 24, presynaptic | 1 | Sep 30, 2021 |
| Myofibrillar myopathy 5 | 1 | Oct 4, 2022 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 | Oct 18, 2022 |
| Myopathy with abnormal lipid metabolism | 1 | Oct 8, 2021 |
| Myopathy, centronuclear, 2 | 2 | Oct 24, 2022 |
| Nemaline myopathy 2 | 2 | Oct 5, 2021 |
| Netherton syndrome | 1 | Oct 7, 2021 |
| Neurodegeneration with brain iron accumulation 4 | 1 | Oct 4, 2021 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Apr 21, 2020 |
| Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | 1 | Oct 11, 2021 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 | Mar 18, 2021 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Sep 30, 2021 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Nov 23, 2020 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 2 | Oct 11, 2021 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Mar 22, 2021 |
| Neuronopathy, distal hereditary motor, type 5B | 1 | Oct 6, 2021 |
| Neuropathy, hereditary sensory, type 2C | 1 | Oct 25, 2022 |
| Nicolaides-Baraitser syndrome | 1 | Mar 23, 2021 |
| Niemann-Pick disease, type C1 | 1 | Jul 13, 2020 |
| Nizon-Isidor syndrome | 1 | Oct 4, 2021 |
| Normophosphatemic familial tumoral calcinosis | 1 | Oct 6, 2021 |
| Osteochondritis dissecans | 1 | Oct 4, 2021 |
| Osteogenesis imperfecta type 12 | 1 | Mar 23, 2021 |
| Osteogenesis imperfecta type 14 | 1 | Oct 8, 2021 |
| Osteogenesis imperfecta type I | 1 | Mar 17, 2021 |
| Osteoporosis with pseudoglioma | 1 | Oct 8, 2021 |
| PTEN-related disorder | 1 | Nov 17, 2020 |
| Periventricular nodular heterotopia 6 | 1 | Oct 4, 2021 |
| Periventricular nodular heterotopia 9 | 1 | Mar 18, 2021 |
| Pitt-Hopkins-like syndrome 2 | 1 | Mar 25, 2021 |
| Polycystic kidney disease 2 | 1 | Mar 23, 2021 |
| Polycystic kidney disease, adult type | 1 | Mar 4, 2021 |
| Pontocerebellar hypoplasia type 2B | 1 | Oct 25, 2022 |
| Pontocerebellar hypoplasia type 3 | 1 | Oct 7, 2021 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 1 | Sep 30, 2021 |
| Premature ovarian failure 8 | 2 | Apr 21, 2020 |
| Primary ciliary dyskinesia 26 | 1 | Oct 5, 2021 |
| Progressive pseudorheumatoid dysplasia | 1 | Apr 21, 2020 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 | Sep 30, 2021 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Oct 25, 2022 |
| Rahman syndrome | 1 | Mar 4, 2021 |
| Retinitis pigmentosa 3 | 1 | Mar 30, 2021 |
| Retinitis pigmentosa 66 | 1 | Apr 21, 2020 |
| Ritscher-Schinzel syndrome 1 | 1 | Oct 11, 2021 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Oct 4, 2021 |
| SNAP25-related early-onset developmental and epileptic encephalopathy | 1 | Sep 30, 2021 |
| STT3A-congenital disorder of glycosylation | 1 | Oct 4, 2021 |
| Schuurs-Hoeijmakers syndrome | 1 | Nov 17, 2020 |
| Seizures, benign familial neonatal, 1 | 1 | Aug 3, 2020 |
| Severe combined immunodeficiency due to IKK2 deficiency | 1 | Oct 4, 2021 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Sep 30, 2021 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Oct 24, 2022 |
| Shprintzen-Goldberg syndrome | 1 | Sep 30, 2021 |
| Spastic paraplegia, autosomal dominant | 1 | Sep 28, 2021 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 1 | Oct 8, 2021 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Apr 21, 2020 |
| Teebi hypertelorism syndrome | 1 | Oct 6, 2021 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Jun 11, 2020 |
| Transcobalamin II deficiency | 1 | Apr 21, 2020 |
| Tremor, hereditary essential, 1 | 1 | Oct 25, 2022 |
| Tremor, hereditary essential, 5 | 1 | Oct 24, 2022 |
| Type A2 brachydactyly | 1 | Sep 30, 2021 |
| VACTERL association, X-linked, with or without hydrocephalus | 1 | Oct 5, 2021 |
| Wolfram syndrome 1 | 2 | Sep 28, 2021 |
| X-linked cone-rod dystrophy 1 | 1 | Mar 30, 2021 |
| X-linked intellectual disability Cabezas type | 1 | Oct 4, 2021 |
| X-linked intellectual disability, Cantagrel type | 1 | Oct 31, 2022 |
| ZTTK syndrome | 2 | Oct 31, 2022 |
