| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 3 | Oct 17, 2018 |
| Abnormal CNS myelination | 1 | Sep 1, 2020 |
| Abnormal facial shape | 1 | Aug 4, 2022 |
| Acute myeloid leukemia | 4 | Oct 17, 2018 |
| Adams-Oliver syndrome 5 | 1 | May 20, 2022 |
| Aicardi-Goutieres syndrome 2 | 1 | May 21, 2021 |
| Alternating hemiplegia of childhood 2 | 8 | Sep 17, 2021 |
| Angelman syndrome | 3 | May 24, 2019 |
| Atrial fibrillation, familial, 13 | 1 | Oct 17, 2018 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Oct 17, 2018 |
| Autism, susceptibility to, 17 | 2 | Jul 7, 2021 |
| Autism, susceptibility to, X-linked 4 | 1 | Oct 17, 2018 |
| Autistic behavior | 4 | Dec 23, 2021 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Oct 17, 2018 |
| Autosomal dominant nocturnal frontal lobe epilepsy | 1 | May 13, 2020 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 | May 24, 2019 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 5 | Oct 19, 2021 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Oct 17, 2018 |
| Autosomal recessive spinocerebellar ataxia 13 | 1 | Apr 23, 2019 |
| Baraitser-Winter syndrome 1 | 2 | Jun 15, 2020 |
| Baraitser-winter syndrome 2 | 1 | Mar 9, 2021 |
| Becker muscular dystrophy | 1 | Oct 17, 2018 |
| Bilateral multifocal epileptiform discharges | 1 | Apr 22, 2020 |
| Bilateral tonic-clonic seizure | 2 | Dec 23, 2021 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 2 | Oct 17, 2018 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 | Mar 4, 2020 |
| Brugada syndrome 5 | 1 | Oct 17, 2018 |
| CHARGE association | 2 | Mar 14, 2022 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Oct 17, 2018 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Jun 10, 2021 |
| 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 cavernous malformation 2 | 1 | Mar 27, 2024 |
| Cerebral dysmyelination | 1 | Sep 1, 2020 |
| Childhood apraxia of speech | 1 | Oct 17, 2018 |
| Childhood onset GLUT1 deficiency syndrome 2 | 6 | Jan 31, 2022 |
| Christianson syndrome | 1 | May 24, 2019 |
| Chromosome 2q32-q33 deletion syndrome | 2 | Oct 17, 2018 |
| Clark-Baraitser syndrome | 3 | Nov 29, 2021 |
| Coffin-Lowry syndrome | 2 | Oct 17, 2018 |
| Coffin-Siris syndrome 1 | 3 | Oct 17, 2018 |
| Coffin-Siris syndrome 6 | 1 | May 23, 2022 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Oct 17, 2018 |
| Combined oxidative phosphorylation defect type 14 | 1 | May 24, 2019 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Dec 6, 2021 |
| 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 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 |
| Craniosynostosis syndrome | 1 | May 6, 2021 |
| Creatine transporter deficiency | 1 | Apr 16, 2021 |
| DYRK1A-related intellectual disability syndrome | 1 | Oct 17, 2018 |
| Dandy-Walker syndrome | 1 | Oct 30, 2020 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Jun 15, 2020 |
| Delayed gross motor development | 1 | Dec 2, 2021 |
| Developmental and epileptic encephalopathy 94 | 8 | Aug 30, 2021 |
| Developmental and epileptic encephalopathy, 11 | 12 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 13 | 8 | Jan 31, 2022 |
| Developmental and epileptic encephalopathy, 14 | 8 | Sep 29, 2020 |
| Developmental and epileptic encephalopathy, 17 | 3 | May 24, 2019 |
| Developmental and epileptic encephalopathy, 19 | 4 | Oct 28, 2021 |
| Developmental and epileptic encephalopathy, 2 | 9 | Jul 16, 2021 |
| Developmental and epileptic encephalopathy, 26 | 3 | Mar 15, 2022 |
| Developmental and epileptic encephalopathy, 27 | 5 | May 20, 2021 |
| Developmental and epileptic encephalopathy, 28 | 1 | May 24, 2019 |
| Developmental and epileptic encephalopathy, 32 | 1 | May 24, 2019 |
| Developmental and epileptic encephalopathy, 33 | 2 | May 24, 2019 |
| Developmental and epileptic encephalopathy, 36 | 1 | May 24, 2019 |
| Developmental and epileptic encephalopathy, 4 | 10 | Dec 24, 2021 |
| Developmental and epileptic encephalopathy, 42 | 5 | Mar 29, 2022 |
| Developmental and epileptic encephalopathy, 43 | 2 | May 24, 2019 |
| Developmental and epileptic encephalopathy, 46 | 1 | May 24, 2019 |
| Developmental and epileptic encephalopathy, 47 | 2 | Mar 29, 2022 |
| Developmental and epileptic encephalopathy, 5 | 2 | Dec 6, 2020 |
| Developmental and epileptic encephalopathy, 52 | 1 | Oct 17, 2018 |
| Developmental and epileptic encephalopathy, 54 | 3 | Aug 3, 2022 |
| Developmental and epileptic encephalopathy, 56 | 1 | Mar 26, 2021 |
| Developmental and epileptic encephalopathy, 59 | 1 | Sep 24, 2020 |
| Developmental and epileptic encephalopathy, 62 | 1 | Apr 15, 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 and epileptic encephalopathy, 7 | 10 | Jul 9, 2022 |
| Developmental and epileptic encephalopathy, 78 | 1 | Apr 5, 2022 |
| Developmental and epileptic encephalopathy, 8 | 3 | May 24, 2019 |
| Developmental and epileptic encephalopathy, 9 | 9 | Sep 17, 2021 |
| 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 |
| Ehlers-Danlos syndrome, type 4 | 1 | Jul 21, 2020 |
| Encephalopathy | 2 | Sep 1, 2020 |
| Encephalopathy due to GLUT1 deficiency | 2 | Nov 26, 2021 |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 | Mar 19, 2021 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Nov 26, 2021 |
| Epilepsy, familial focal, with variable foci 1 | 10 | Mar 28, 2022 |
| Epilepsy, familial temporal lobe, 1 | 2 | Feb 16, 2021 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 2 | Aug 3, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 | Oct 17, 2018 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Oct 19, 2020 |
| Epileptic encephalopathy | 6 | Mar 15, 2022 |
| 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 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | Apr 14, 2022 |
| Febrile seizures, familial, 8 | 1 | May 20, 2022 |
| Focal dermal hypoplasia | 1 | Nov 3, 2021 |
| Focal-onset seizure | 3 | Mar 31, 2022 |
| Frontometaphyseal dysplasia 1 | 1 | Oct 17, 2018 |
| 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 | 14 | May 6, 2022 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | May 24, 2019 |
| Generalized myoclonic seizure | 1 | Jul 20, 2020 |
| Global developmental delay | 47 | Mar 21, 2022 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 1 | Jun 3, 2020 |
| Hereditary cryohydrocytosis with reduced stomatin | 1 | Oct 17, 2018 |
| Hereditary spastic paraplegia 28 | 1 | Jun 3, 2021 |
| Heterotopia, periventricular, X-linked dominant | 2 | Mar 9, 2021 |
| Hogue-Janssens syndrome 1 | 1 | Oct 17, 2018 |
| Houge-Janssens syndrome 2 | 2 | May 11, 2021 |
| Hurler syndrome | 1 | Jun 20, 2020 |
| Hyperprolinemia type 2 | 1 | May 24, 2019 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Oct 17, 2018 |
| Hypotonia | 2 | Jul 11, 2022 |
| 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 dominant 64 | 1 | Nov 22, 2021 |
| Intellectual developmental disorder, autosomal recessive 68 | 1 | Dec 22, 2021 |
| Intellectual disability | 55 | Feb 1, 2023 |
| Intellectual disability, X-linked 1 | 4 | Jan 27, 2021 |
| Intellectual disability, X-linked 102 | 1 | Mar 9, 2021 |
| Intellectual disability, X-linked 107 | 1 | Apr 1, 2022 |
| Intellectual disability, X-linked 19 | 2 | Oct 17, 2018 |
| Intellectual disability, X-linked 21 | 2 | Oct 17, 2018 |
| Intellectual disability, X-linked 49 | 2 | Sep 10, 2021 |
| Intellectual disability, X-linked 99 | 1 | Oct 17, 2018 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Oct 17, 2018 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Apr 30, 2021 |
| Intellectual disability, autosomal dominant 1 | 2 | Sep 27, 2021 |
| Intellectual disability, autosomal dominant 16 | 2 | Oct 17, 2018 |
| Intellectual disability, autosomal dominant 20 | 1 | Oct 17, 2018 |
| Intellectual disability, autosomal dominant 27 | 1 | Oct 17, 2018 |
| Intellectual disability, autosomal dominant 29 | 1 | Oct 17, 2018 |
| Intellectual disability, autosomal dominant 38 | 1 | Oct 17, 2018 |
| Intellectual disability, autosomal dominant 42 | 1 | Nov 29, 2021 |
| Intellectual disability, autosomal dominant 43 | 1 | Oct 17, 2018 |
| Intellectual disability, autosomal dominant 5 | 15 | Mar 15, 2021 |
| Intellectual disability, autosomal dominant 6 | 1 | Oct 17, 2018 |
| Intellectual disability, autosomal dominant 8 | 3 | Jun 10, 2020 |
| Intellectual disability, autosomal recessive 2 | 1 | Nov 15, 2021 |
| Intellectual disability, mild | 1 | Dec 2, 2021 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 3 | Oct 17, 2018 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Oct 17, 2018 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | Oct 17, 2018 |
| 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 |
| Landau-Kleffner syndrome | 16 | Jul 4, 2022 |
| Lissencephaly due to TUBA1A mutation | 3 | Dec 23, 2021 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Oct 17, 2018 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | May 6, 2021 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 1 | May 11, 2021 |
| Malan overgrowth syndrome | 2 | Apr 4, 2022 |
| 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 |
| Mevalonic aciduria | 1 | Dec 23, 2021 |
| Microcephaly | 5 | Aug 3, 2022 |
| Microcephaly-capillary malformation syndrome | 2 | Jul 2, 2021 |
| Micrognathia | 1 | Jun 16, 2020 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Oct 17, 2018 |
| Migraine, familial hemiplegic, 2 | 1 | Feb 8, 2021 |
| 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-astatic epilepsy | 11 | Jul 19, 2022 |
| Myoclonus | 1 | Jul 15, 2022 |
| Neonatal hypotonia | 1 | May 5, 2021 |
| Neu-Laxova syndrome 1 | 1 | Sep 11, 2023 |
| Neurodegeneration with brain iron accumulation 5 | 4 | Feb 11, 2022 |
| Neurodevelopmental delay | 1 | Sep 10, 2021 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 | Mar 5, 2021 |
| Neurodevelopmental disorder with infantile epileptic spasms | 1 | May 20, 2022 |
| 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 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Jun 7, 2022 |
| Oto-palato-digital syndrome, type I | 1 | Oct 17, 2018 |
| Oto-palato-digital syndrome, type II | 1 | Oct 17, 2018 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Oct 5, 2020 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Mar 9, 2021 |
| Paroxysmal dystonia | 1 | Sep 30, 2020 |
| Periventricular nodular heterotopia 7 | 1 | May 24, 2019 |
| Phelan-McDermid syndrome | 2 | Jul 20, 2020 |
| Pitt-Hopkins syndrome | 1 | Oct 17, 2018 |
| Polymicrogyria | 2 | Jul 26, 2018 |
| Progressive myoclonic epilepsy type 7 | 1 | May 24, 2019 |
| Pyridoxal phosphate-responsive seizures | 1 | May 24, 2019 |
| Pyridoxine-dependent epilepsy | 2 | Mar 25, 2022 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Oct 17, 2018 |
| Renpenning syndrome | 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 due to CREBBP mutations | 1 | Oct 17, 2018 |
| SLC35A2-congenital disorder of glycosylation | 1 | May 24, 2019 |
| Schinzel-Giedion syndrome | 1 | Oct 17, 2018 |
| Schizophrenia | 2 | Feb 7, 2022 |
| Schizophrenia 15 | 1 | Oct 17, 2018 |
| Schizophrenia 18 | 1 | Oct 17, 2018 |
| Schuurs-Hoeijmakers syndrome | 1 | Oct 17, 2018 |
| See cases | 6 | Jun 8, 2023 |
| Seizure | 69 | Nov 15, 2023 |
| 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 |
| Seizures, benign familial neonatal, 1 | 16 | Mar 9, 2022 |
| Seizures, benign familial neonatal, 2 | 1 | May 24, 2019 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Oct 17, 2018 |
| Severe global developmental delay | 1 | Dec 29, 2021 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Oct 17, 2018 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Mar 15, 2021 |
| Severe myoclonic epilepsy in infancy | 17 | Jul 1, 2022 |
| Severe neonatal-onset encephalopathy with microcephaly | 2 | May 24, 2019 |
| Short stature, microcephaly, and endocrine dysfunction | 1 | Dec 23, 2021 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Jan 17, 2022 |
| 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-Magenis syndrome | 1 | Oct 17, 2018 |
| Snijders Blok-Campeau syndrome | 1 | May 23, 2022 |
| Sotos syndrome | 2 | Oct 17, 2018 |
| Specific learning disability | 1 | Jul 16, 2021 |
| Spondyloepiphyseal dysplasia | 1 | Mar 9, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 3 | 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 |
| Syndromic X-linked intellectual disability Raymond type | 1 | Oct 17, 2018 |
| Tatton-Brown-Rahman overgrowth syndrome | 2 | Oct 17, 2018 |
| Terminal osseous dysplasia-pigmentary defects syndrome | 1 | Oct 17, 2018 |
| Transposition of the great arteries, dextro-looped | 2 | Oct 17, 2018 |
| Usher syndrome type 2A | 1 | Oct 5, 2020 |
| Wiedemann-Steiner syndrome | 1 | Oct 17, 2018 |
| Wilms tumor 1 | 1 | Oct 17, 2018 |
| X-linked intellectual disability with marfanoid habitus | 2 | Oct 17, 2018 |
| X-linked intellectual disability, Cantagrel type | 4 | Nov 22, 2021 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 | Jan 15, 2021 |
| ZTTK syndrome | 2 | Dec 6, 2020 |
