| 22q13.3 deletion syndrome | 2 | Jul 20, 2020 |
| Abnormal CNS myelination | 1 | Sep 1, 2020 |
| Acute myeloid leukemia | 4 | Oct 17, 2018 |
| Aicardi Goutieres syndrome 2 | 1 | May 21, 2021 |
| Alternating hemiplegia of childhood 2 | 8 | Sep 17, 2021 |
| Angelman syndrome | 3 | May 24, 2019 |
| Arboleda-Tham syndrome | 1 | Oct 17, 2018 |
| Atrial fibrillation, familial, 13 | 1 | Oct 17, 2018 |
| Autism 17 | 2 | Jul 7, 2021 |
| Autism, susceptibility to, X-linked 4 | 1 | Oct 17, 2018 |
| Autistic behavior | 4 | Dec 23, 2021 |
| Autosomal dominant intellectual developmental disorder 64 | 1 | Nov 22, 2021 |
| Autosomal dominant nocturnal frontal lobe epilepsy | 1 | May 13, 2020 |
| Bainbridge-Ropers syndrome | 1 | Oct 17, 2018 |
| Baraitser-Winter Syndrome 2 | 1 | Mar 9, 2021 |
| Baraitser-Winter syndrome 1 | 2 | Jun 15, 2020 |
| Becker muscular dystrophy | 1 | Oct 17, 2018 |
| Benign familial neonatal seizures 1 | 14 | Sep 17, 2021 |
| Benign familial neonatal seizures 2 | 1 | May 24, 2019 |
| Bilateral multifocal epileptiform discharges | 1 | Apr 22, 2020 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 | Mar 4, 2020 |
| Brugada syndrome 5 | 1 | Oct 17, 2018 |
| CHARGE association | 1 | Oct 17, 2018 |
| Cardiac valvular dysplasia, X-linked | 1 | Oct 17, 2018 |
| Cerebellar atrophy | 2 | Oct 7, 2019 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Oct 7, 2020 |
| Cerebral dysmyelination | 1 | Sep 1, 2020 |
| Christianson syndrome | 1 | May 24, 2019 |
| Chromosome 2q32-q33 deletion syndrome | 2 | Oct 17, 2018 |
| Clark-Baraitser syndrome | 3 | Nov 29, 2021 |
| Cleft palate, cardiac defects, and mental retardation | 1 | Jun 10, 2021 |
| Coenzyme Q10 deficiency, primary, 5 | 1 | Mar 19, 2021 |
| Coffin-Lowry syndrome | 2 | Oct 17, 2018 |
| Coffin-Siris syndrome 1 | 3 | Oct 17, 2018 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Oct 17, 2018 |
| Combined oxidative phosphorylation deficiency 14 | 1 | May 24, 2019 |
| Complex febrile seizure | 1 | Mar 17, 2020 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | May 17, 2021 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Oct 17, 2018 |
| Congenital stationary night blindness, type 1B | 1 | Oct 5, 2020 |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 | Oct 17, 2018 |
| Cornelia de Lange syndrome 3 | 1 | Oct 17, 2018 |
| Cornelia de Lange syndrome 5 | 2 | Oct 22, 2020 |
| Cortical dysplasia, complex, with other brain malformations 5 | 1 | Dec 6, 2021 |
| Craniosynostosis syndrome | 1 | May 6, 2021 |
| Creatine transporter deficiency | 1 | Apr 16, 2021 |
| Dandy-Walker syndrome | 1 | Oct 30, 2020 |
| Deafness, autosomal recessive 28 | 1 | Oct 17, 2018 |
| Deficiency of pyrroline-5-carboxylate reductase | 1 | May 24, 2019 |
| Delayed gross motor development | 1 | Dec 2, 2021 |
| Desanto-shinawi syndrome | 1 | Jun 15, 2020 |
| Developmental and epileptic encephalopathy 94 | 8 | Aug 30, 2021 |
| Developmental and epileptic encephalopathy, 42 | 4 | Jun 29, 2021 |
| Developmental and epileptic encephalopathy, 56 | 1 | Mar 26, 2021 |
| Developmental and epileptic encephalopathy, 65 | 1 | Jun 25, 2021 |
| Developmental and epileptic encephalopathy, 67 | 2 | Apr 1, 2021 |
| Developmental and epileptic encephalopathy, 69 | 1 | Sep 27, 2021 |
| Developmental delay, intellectual disability, obesity, and dysmorphic features | 1 | Oct 5, 2020 |
| Developmental malformations-deafness-dystonia syndrome | 1 | Oct 17, 2018 |
| Dicarboxylic aminoaciduria | 1 | Oct 17, 2018 |
| Dilated cardiomyopathy 3B | 1 | Oct 17, 2018 |
| Duchenne muscular dystrophy | 1 | Oct 17, 2018 |
| Dysequilibrium syndrome | 1 | Mar 25, 2020 |
| Dystonia 9 | 1 | Oct 17, 2018 |
| EEG with focal epileptiform discharges | 1 | Jul 19, 2021 |
| Early infantile epileptic encephalopathy 11 | 11 | Oct 20, 2020 |
| Early infantile epileptic encephalopathy 13 | 6 | Sep 27, 2021 |
| Early infantile epileptic encephalopathy 14 | 8 | Sep 29, 2020 |
| Early infantile epileptic encephalopathy 17 | 3 | May 24, 2019 |
| Early infantile epileptic encephalopathy 2 | 9 | Jul 16, 2021 |
| Early infantile epileptic encephalopathy 4 | 10 | Dec 24, 2021 |
| Early infantile epileptic encephalopathy 5 | 2 | Dec 6, 2020 |
| Early infantile epileptic encephalopathy 59 | 1 | Sep 24, 2020 |
| Early infantile epileptic encephalopathy 62 | 1 | Apr 15, 2021 |
| Early infantile epileptic encephalopathy 7 | 8 | Jul 21, 2020 |
| Early infantile epileptic encephalopathy 8 | 3 | May 24, 2019 |
| Early infantile epileptic encephalopathy 9 | 9 | Sep 17, 2021 |
| Ehlers-Danlos syndrome, type 4 | 1 | Jul 21, 2020 |
| Encephalopathy | 2 | Sep 1, 2020 |
| Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 1 | Nov 26, 2021 |
| Epilepsy, familial focal, with variable foci 1 | 8 | Jan 11, 2022 |
| Epilepsy, focal, with speech disorder and with or without mental retardation | 15 | Jun 10, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 | Oct 17, 2018 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Oct 19, 2020 |
| Epilepsy, juvenile myoclonic 5 | 1 | Oct 17, 2018 |
| Epilepsy, nocturnal frontal lobe, 5 | 5 | Oct 19, 2021 |
| Epilepsy, nocturnal frontal lobe, type 4 | 1 | May 24, 2019 |
| Epilepsy, progressive myoclonic 7 | 1 | May 24, 2019 |
| Epileptic encephalopathy | 4 | Dec 28, 2021 |
| Epileptic encephalopathy, early infantile, 19 | 4 | Oct 28, 2021 |
| Epileptic encephalopathy, early infantile, 26 | 2 | Oct 17, 2018 |
| Epileptic encephalopathy, early infantile, 27 | 5 | May 20, 2021 |
| Epileptic encephalopathy, early infantile, 28 | 1 | May 24, 2019 |
| Epileptic encephalopathy, early infantile, 32 | 1 | May 24, 2019 |
| Epileptic encephalopathy, early infantile, 33 | 2 | May 24, 2019 |
| Epileptic encephalopathy, early infantile, 36 | 1 | May 24, 2019 |
| Epileptic encephalopathy, early infantile, 43 | 2 | May 24, 2019 |
| Epileptic encephalopathy, early infantile, 46 | 1 | May 24, 2019 |
| Epileptic encephalopathy, early infantile, 47 | 1 | May 24, 2019 |
| Epileptic encephalopathy, early infantile, 52 | 1 | Oct 17, 2018 |
| Epileptic encephalopathy, early infantile, 54 | 2 | Mar 3, 2021 |
| Episodic kinesigenic dyskinesia 1 | 2 | May 24, 2019 |
| FG syndrome 1 | 2 | Oct 17, 2018 |
| FG syndrome 2 | 1 | Oct 17, 2018 |
| FG syndrome 4 | 1 | Oct 17, 2018 |
| Familial hemiplegic migraine type 2 | 1 | Feb 8, 2021 |
| Familial temporal lobe epilepsy 1 | 2 | Feb 16, 2021 |
| Focal dermal hypoplasia | 1 | Nov 3, 2021 |
| Focal-onset seizure | 1 | Feb 25, 2020 |
| Frontometaphyseal dysplasia 1 | 1 | Oct 17, 2018 |
| GLUT1 deficiency syndrome 1 | 2 | Nov 26, 2021 |
| GLUT1 deficiency syndrome 2 | 5 | Dec 22, 2021 |
| Generalized epilepsy with febrile seizures plus | 1 | Nov 26, 2021 |
| Generalized epilepsy with febrile seizures plus, type 1 | 3 | May 24, 2019 |
| Generalized epilepsy with febrile seizures plus, type 2 | 13 | Nov 15, 2021 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | May 24, 2019 |
| Generalized myoclonic seizure | 1 | Jul 20, 2020 |
| Generalized tonic-clonic seizures | 2 | Dec 23, 2021 |
| Global developmental delay | 46 | Sep 10, 2021 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 1 | Jun 3, 2020 |
| Helsmoortel-Van der Aa Syndrome | 3 | Oct 17, 2018 |
| Hurler syndrome | 1 | Jun 20, 2020 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Oct 17, 2018 |
| Infantile convulsions and choreoathetosis | 1 | Apr 27, 2020 |
| Infantile spasms | 1 | Mar 16, 2020 |
| Intellectual developmental disorder 62 | 1 | Jun 22, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Jun 12, 2020 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Oct 17, 2018 |
| Intellectual developmental disorder with seizures and language delay | 2 | Nov 19, 2021 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 1 | Dec 16, 2020 |
| Intellectual developmental disorder, autosomal recessive 68 | 1 | Dec 22, 2021 |
| Intellectual disability | 42 | Dec 29, 2021 |
| Intellectual disability, X-linked 21 | 2 | Oct 17, 2018 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Apr 30, 2021 |
| Intellectual disability, mild | 1 | Dec 2, 2021 |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 1 | Oct 17, 2018 |
| KBG syndrome | 2 | Oct 17, 2018 |
| Kabuki syndrome 1 | 4 | Oct 17, 2018 |
| Kabuki syndrome 2 | 2 | Dec 16, 2020 |
| Kleefstra syndrome 1 | 5 | Oct 28, 2021 |
| Koolen-de Vries syndrome | 2 | Oct 17, 2018 |
| Lafora disease | 1 | May 24, 2019 |
| Lamb-shaffer syndrome | 2 | Oct 22, 2021 |
| Lissencephaly due to TUBA1A mutation | 3 | Dec 23, 2021 |
| Lissencephaly, X-linked | 1 | Oct 17, 2018 |
| Malignant migrating partial seizures of infancy | 1 | Jan 25, 2021 |
| Marshall-Smith syndrome | 1 | Oct 17, 2018 |
| Martsolf syndrome | 1 | Oct 5, 2020 |
| Melnick-Needles syndrome | 1 | Oct 17, 2018 |
| Mental retardation 49, X-linked | 2 | Sep 10, 2021 |
| Mental retardation and distinctive facial features with or without cardiac defects | 2 | Oct 17, 2018 |
| Mental retardation with language impairment and with or without autistic features | 2 | Oct 17, 2018 |
| Mental retardation, X-linked 1 | 4 | Jan 27, 2021 |
| Mental retardation, X-linked 102 | 1 | Mar 9, 2021 |
| Mental retardation, X-linked 19 | 2 | Oct 17, 2018 |
| Mental retardation, X-linked 98 | 4 | Nov 22, 2021 |
| Mental retardation, X-linked 99 | 1 | Oct 17, 2018 |
| Mental retardation, X-linked 99, syndromic, female-restricted | 1 | Oct 17, 2018 |
| Mental retardation, X-linked, syndromic 13 | 2 | Jan 15, 2021 |
| Mental retardation, X-linked, syndromic, Raymond type | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 1 | 2 | Sep 27, 2021 |
| Mental retardation, autosomal dominant 16 | 2 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 18 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 19 | 1 | Mar 15, 2021 |
| Mental retardation, autosomal dominant 23 | 3 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 26 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 27 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 29 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 31 | 1 | Mar 9, 2021 |
| Mental retardation, autosomal dominant 35 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 36 | 2 | May 11, 2021 |
| Mental retardation, autosomal dominant 38 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 42 | 1 | Nov 29, 2021 |
| Mental retardation, autosomal dominant 43 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 44 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 5 | 15 | Mar 15, 2021 |
| Mental retardation, autosomal dominant 6 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 7 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal recessive 2 | 1 | Nov 15, 2021 |
| Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 1 | Oct 17, 2018 |
| Mental retardation, syndromic, Claes-Jensen type, X-linked | 3 | Oct 17, 2018 |
| Mevalonic aciduria | 1 | Dec 23, 2021 |
| Microcephaly | 3 | Sep 1, 2020 |
| Microcephaly-capillary malformation syndrome | 2 | Jul 2, 2021 |
| Micrognathia | 1 | Jun 16, 2020 |
| Moderate global developmental delay | 1 | Dec 28, 2021 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | May 24, 2019 |
| Myoclonic absence seizure | 1 | Jun 26, 2020 |
| Myoclonic-atonic epilepsy | 10 | Dec 23, 2021 |
| Neonatal hypotonia | 1 | May 5, 2021 |
| Neurodegeneration with brain iron accumulation 5 | 3 | May 24, 2019 |
| Neurodevelopmental delay | 1 | Sep 10, 2021 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 | Mar 5, 2021 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 3 | Jun 10, 2020 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 1 | Oct 17, 2018 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Mar 19, 2020 |
| Nicolaides-Baraitser syndrome | 1 | Oct 17, 2018 |
| Ohdo syndrome, X-linked | 2 | Oct 17, 2018 |
| Oto-palato-digital syndrome, type I | 1 | Oct 17, 2018 |
| Oto-palato-digital syndrome, type II | 1 | Oct 17, 2018 |
| Paroxysmal dystonia | 1 | Sep 30, 2020 |
| Periventricular nodular heterotopia 1 | 2 | Mar 9, 2021 |
| Periventricular nodular heterotopia 7 | 1 | May 24, 2019 |
| Pitt-Hopkins syndrome | 1 | Oct 17, 2018 |
| Polymicrogyria | 2 | Jul 26, 2018 |
| Pyridoxal phosphate-responsive seizures | 1 | May 24, 2019 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Oct 17, 2018 |
| Renpenning syndrome 1 | 1 | Oct 17, 2018 |
| Rett syndrome | 8 | Jun 25, 2021 |
| Rett syndrome, congenital variant | 3 | Jan 29, 2021 |
| Rhabdoid tumor predisposition syndrome 2 | 2 | Oct 17, 2018 |
| Rubinstein-Taybi syndrome 1 | 1 | Oct 17, 2018 |
| SLC35A2-CDG | 1 | May 24, 2019 |
| Schinzel-Giedion syndrome | 1 | Oct 17, 2018 |
| Schizophrenia | 1 | Jan 3, 2022 |
| Schizophrenia 15 | 1 | Oct 17, 2018 |
| Schizophrenia 18 | 1 | Oct 17, 2018 |
| Schuurs-hoeijmakers syndrome | 1 | Oct 17, 2018 |
| Seizures | 42 | Dec 28, 2021 |
| Seizures, benign familial infantile, 2 | 3 | May 24, 2019 |
| Seizures, benign familial infantile, 3 | 9 | May 20, 2021 |
| Seizures, benign familial infantile, 5 | 2 | Jan 5, 2021 |
| Severe global developmental delay | 1 | Dec 29, 2021 |
| Severe myoclonic epilepsy in infancy | 15 | Dec 23, 2021 |
| Severe neonatal-onset encephalopathy with microcephaly | 2 | May 24, 2019 |
| Short stature, microcephaly, and endocrine dysfunction | 1 | Dec 23, 2021 |
| Sifrim-Hitz-Weiss syndrome | 1 | Oct 17, 2018 |
| Simpson-Golabi-Behmel syndrome type 1 | 1 | Oct 17, 2018 |
| Sjögren-Larsson syndrome | 2 | Jun 29, 2021 |
| Skraban-Deardorff syndrome | 1 | Jun 8, 2021 |
| Smith-Kingsmore syndrome | 1 | May 6, 2021 |
| Smith-Magenis syndrome | 1 | Oct 17, 2018 |
| Sotos syndrome 1 | 2 | Oct 17, 2018 |
| Sotos syndrome 2 | 1 | Oct 17, 2018 |
| Spastic paraplegia 28, autosomal recessive | 1 | Jun 3, 2021 |
| Specific learning disability | 1 | Jul 16, 2021 |
| Speech-language disorder 1 | 1 | Oct 17, 2018 |
| Spinocerebellar ataxia, autosomal recessive 13 | 1 | Apr 23, 2019 |
| Stomatin-deficient cryohydrocytosis with neurologic defects | 1 | Oct 17, 2018 |
| Syndromic X-linked intellectual disability Lubs type | 1 | Oct 17, 2018 |
| Syndromic X-linked intellectual disability Najm type | 2 | May 24, 2019 |
| Takenouchi-Kosaki syndrome | 1 | May 11, 2021 |
| Tatton-Brown-rahman syndrome | 2 | Oct 17, 2018 |
| Terminal osseous dysplasia | 1 | Oct 17, 2018 |
| Transposition of the great arteries, dextro-looped 1 | 2 | Oct 17, 2018 |
| Usher syndrome, type 2A | 1 | Oct 5, 2020 |
| White-sutton syndrome | 2 | Oct 17, 2018 |
| Wiedemann-Steiner syndrome | 1 | Oct 17, 2018 |
| Wilms tumor 1 | 1 | Oct 17, 2018 |
| X-linked mental retardation with marfanoid habitus syndrome | 2 | Oct 17, 2018 |
| ZTTK syndrome | 2 | Dec 6, 2020 |
