| Alagille syndrome due to a JAG1 point mutation | 1 | Apr 20, 2023 |
| Allan-Herndon-Dudley syndrome | 1 | Apr 20, 2023 |
| Alternating hemiplegia of childhood 2 | 1 | Apr 20, 2023 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Apr 20, 2023 |
| Au-Kline syndrome | 1 | Apr 20, 2023 |
| Autism | 2 | Apr 20, 2023 |
| Autism spectrum disorder due to AUTS2 deficiency | 2 | Apr 20, 2023 |
| Autism, susceptibility to, X-linked 4 | 1 | Apr 20, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Apr 20, 2023 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 | Apr 20, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 | Apr 20, 2023 |
| Autosomal recessive multiple pterygium syndrome | 2 | Apr 20, 2023 |
| Autosomal recessive nonsyndromic hearing loss 4 | 2 | Apr 20, 2023 |
| Basilicata-Akhtar syndrome | 1 | Apr 20, 2023 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Apr 20, 2023 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Apr 20, 2023 |
| Bohring-Opitz syndrome | 2 | Apr 20, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Apr 20, 2023 |
| Branchiootic syndrome 3 | 1 | Apr 20, 2023 |
| Brown-Vialetto-van Laere syndrome 2 | 2 | Apr 9, 2015 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Apr 20, 2023 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 1 | Apr 20, 2023 |
| Classic dopamine transporter deficiency syndrome | 2 | Apr 20, 2023 |
| Clubfoot | 1 | Apr 20, 2023 |
| Coffin-Lowry syndrome | 2 | Apr 20, 2023 |
| Coffin-Siris syndrome 1 | 2 | Apr 20, 2023 |
| Coffin-Siris syndrome 5 | 1 | Apr 20, 2023 |
| Coffin-Siris syndrome 8 | 1 | Apr 20, 2023 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Apr 20, 2023 |
| Combined immunodeficiency due to STK4 deficiency | 2 | Apr 20, 2023 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Apr 20, 2023 |
| Congenital myasthenic syndrome 13 | 2 | Apr 20, 2023 |
| Creatine transporter deficiency | 1 | Apr 20, 2023 |
| DNA ligase IV deficiency | 2 | Apr 20, 2023 |
| DYRK1A-related intellectual disability syndrome | 3 | Apr 20, 2023 |
| Developmental and epileptic encephalopathy 94 | 1 | Apr 20, 2023 |
| Developmental and epileptic encephalopathy, 13 | 1 | Apr 20, 2023 |
| Developmental and epileptic encephalopathy, 28 | 1 | Apr 20, 2023 |
| Developmental and epileptic encephalopathy, 31A | 1 | Apr 20, 2023 |
| Developmental and epileptic encephalopathy, 33 | 1 | Apr 20, 2023 |
| Developmental and epileptic encephalopathy, 4 | 2 | Apr 20, 2023 |
| Developmental and epileptic encephalopathy, 7 | 2 | Apr 20, 2023 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Apr 20, 2023 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 2 | Apr 20, 2023 |
| Epilepsy with myoclonic atonic seizures | 1 | Apr 20, 2023 |
| Epileptic encephalopathy | 1 | Apr 20, 2023 |
| FG syndrome 1 | 3 | Apr 20, 2023 |
| Feingold syndrome type 1 | 1 | Apr 20, 2023 |
| Global developmental delay | 1 | Oct 20, 2022 |
| Glycogen storage disease IXd | 1 | Apr 20, 2023 |
| Gorlin syndrome | 1 | Apr 20, 2023 |
| Hereditary spastic paraplegia 35 | 1 | Apr 20, 2023 |
| Hereditary spastic paraplegia 4 | 1 | Apr 20, 2023 |
| Heterotaxy, visceral, 5, autosomal | 1 | Apr 20, 2023 |
| Houge-Janssens syndrome 2 | 1 | Apr 20, 2023 |
| Hypercalcemia, infantile, 1 | 3 | Apr 20, 2023 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Apr 20, 2023 |
| Ichthyosis vulgaris | 1 | Apr 20, 2023 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 1 | Apr 20, 2023 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 1 | Apr 20, 2023 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | Apr 20, 2023 |
| Intellectual developmental disorder, autosomal dominant 68 | 1 | Apr 20, 2023 |
| Intellectual disability, X-linked 102 | 1 | Apr 20, 2023 |
| Intellectual disability, X-linked 30 | 1 | Apr 20, 2023 |
| Intellectual disability, X-linked 99 | 1 | Apr 20, 2023 |
| Intellectual disability, X-linked syndromic, Turner type | 3 | Apr 20, 2023 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Apr 20, 2023 |
| Intellectual disability, autosomal dominant 13 | 1 | Apr 20, 2023 |
| Intellectual disability, autosomal dominant 42 | 1 | Apr 20, 2023 |
| Intellectual disability, autosomal dominant 43 | 1 | Apr 20, 2023 |
| Intellectual disability, autosomal dominant 51 | 1 | Apr 20, 2023 |
| Intellectual disability, autosomal dominant 8 | 2 | Apr 20, 2023 |
| Intellectual disability, autosomal dominant 9 | 1 | Apr 20, 2023 |
| Intellectual disability, autosomal recessive 42 | 2 | Apr 20, 2023 |
| Intellectual disability, autosomal recessive 5 | 1 | Apr 20, 2023 |
| Intellectual disability, severe | 4 | Apr 20, 2023 |
| KBG syndrome | 1 | Apr 20, 2023 |
| Landau-Kleffner syndrome | 1 | Apr 20, 2023 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 2 | Apr 20, 2023 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Apr 20, 2023 |
| Lissencephaly due to TUBA1A mutation | 1 | Apr 20, 2023 |
| MEGF8-related Carpenter syndrome | 2 | Apr 20, 2023 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Apr 20, 2023 |
| Malan overgrowth syndrome | 1 | Apr 20, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Apr 20, 2023 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 1 | Apr 20, 2023 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | Apr 20, 2023 |
| Menke-Hennekam syndrome 1 | 1 | Apr 20, 2023 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 2 | Apr 20, 2023 |
| Multiple endocrine neoplasia type 2B | 1 | Apr 20, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 2 | Apr 20, 2023 |
| Myhre syndrome | 1 | Apr 20, 2023 |
| Myopathy, congenital, with tremor | 1 | Apr 20, 2023 |
| Neurodevelopmental delay | 6 | Apr 20, 2023 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 2 | Apr 20, 2023 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 | Apr 20, 2023 |
| Neurodevelopmental disorder with involuntary movements | 1 | Apr 20, 2023 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 1 | Apr 20, 2023 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 1 | Apr 20, 2023 |
| Neuronal ceroid lipofuscinosis 7 | 2 | Apr 20, 2023 |
| Neuronopathy, distal hereditary motor, type 7B | 1 | Apr 20, 2023 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 1 | Apr 20, 2023 |
| Niemann-Pick disease, type C1 | 1 | Apr 20, 2023 |
| Noonan syndrome 8 | 1 | Apr 20, 2023 |
| Noonan syndrome 9 | 1 | Apr 20, 2023 |
| Obesity | 1 | Apr 20, 2023 |
| Oculodentodigital dysplasia | 1 | Apr 20, 2023 |
| Optic atrophy 13 with retinal and foveal abnormalities | 1 | Apr 20, 2023 |
| Paraplegia-intellectual disability-hyperkeratosis syndrome | 1 | Apr 20, 2023 |
| Phelan-McDermid syndrome | 1 | Apr 20, 2023 |
| Pitt-Hopkins syndrome | 1 | Apr 20, 2023 |
| Pontocerebellar hypoplasia type 2D | 2 | Apr 20, 2023 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 2 | Apr 20, 2023 |
| Pontocerebellar hypoplasia, type 14 | 1 | Apr 20, 2023 |
| Renal carnitine transport defect | 2 | Apr 20, 2023 |
| Retinitis pigmentosa 2 | 1 | Apr 20, 2023 |
| Rett syndrome | 1 | Apr 20, 2023 |
| Rett syndrome, congenital variant | 1 | Apr 20, 2023 |
| Schaaf-Yang syndrome | 2 | Apr 20, 2023 |
| Schinzel-Giedion syndrome | 1 | Apr 20, 2023 |
| Seizure | 3 | Apr 20, 2023 |
| Seizures, benign familial neonatal, 1 | 1 | Apr 20, 2023 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Apr 20, 2023 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Apr 20, 2023 |
| Severe postnatal growth retardation | 1 | Apr 20, 2023 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 | Apr 20, 2023 |
| Sialuria | 1 | Apr 20, 2023 |
| Silver-Russell syndrome 3 | 1 | Apr 20, 2023 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Apr 20, 2023 |
| Temple-Baraitser syndrome | 1 | Apr 20, 2023 |
| Tourette syndrome | 1 | Apr 20, 2023 |
| Van Maldergem syndrome 1 | 2 | Apr 20, 2023 |
| Vanishing white matter disease | 2 | Apr 20, 2023 |
| Warsaw breakage syndrome | 2 | Apr 20, 2023 |
| Weiss-Kruszka syndrome | 1 | Apr 20, 2023 |
| Wiedemann-Steiner syndrome | 1 | Apr 20, 2023 |
| ZTTK syndrome | 1 | Apr 20, 2023 |
| Zimmermann-Laband syndrome 1 | 1 | Apr 20, 2023 |
