| 4p partial monosomy syndrome | 1 | May 18, 2022 |
| Acquired hemoglobin H disease | 1 | Nov 19, 2020 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Nov 19, 2020 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Nov 19, 2020 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Nov 19, 2020 |
| Autism, susceptibility to, X-linked 3 | 1 | Nov 19, 2020 |
| Autism, susceptibility to, X-linked 4 | 3 | Nov 19, 2020 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2 | Nov 19, 2020 |
| Autosomal recessive ataxia, Beauce type | 1 | Nov 19, 2020 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Nov 19, 2020 |
| Bilateral frontoparietal polymicrogyria | 2 | Nov 19, 2020 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 2 | Apr 26, 2020 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Nov 19, 2020 |
| Bloom syndrome | 2 | Apr 26, 2020 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Nov 19, 2020 |
| Cardio-facio-cutaneous syndrome | 17 | Mar 26, 2020 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 5 | Apr 26, 2020 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Nov 19, 2020 |
| Cerebrooculofacioskeletal syndrome 2 | 1 | Apr 26, 2020 |
| Cerebrooculofacioskeletal syndrome 3 | 1 | Apr 26, 2020 |
| Chondrocalcinosis 2 | 1 | Nov 19, 2020 |
| Christianson syndrome | 2 | Nov 19, 2020 |
| Cobblestone lissencephaly without muscular or ocular involvement | 1 | Apr 26, 2020 |
| Cockayne syndrome type 2 | 2 | Apr 26, 2020 |
| Coffin-Siris syndrome 1 | 1 | Nov 19, 2020 |
| Cohen syndrome | 8 | Apr 26, 2020 |
| Combined immunodeficiency due to DOCK8 deficiency | 1 | Nov 19, 2020 |
| Complex cortical dysplasia with other brain malformations 2 | 1 | Apr 26, 2020 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | Apr 26, 2020 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Apr 26, 2020 |
| Complex cortical dysplasia with other brain malformations 6 | 1 | Apr 26, 2020 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Nov 19, 2020 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 3 | Apr 26, 2020 |
| Cornelia de Lange syndrome 1 | 1 | Nov 19, 2020 |
| Costello syndrome | 5 | Mar 26, 2020 |
| Craniometaphyseal dysplasia, autosomal dominant | 1 | Nov 19, 2020 |
| DNA ligase IV deficiency | 2 | Apr 26, 2020 |
| DYRK1A-related intellectual disability syndrome | 7 | Apr 26, 2020 |
| Developmental and epileptic encephalopathy, 11 | 4 | Nov 19, 2020 |
| Developmental and epileptic encephalopathy, 27 | 2 | Nov 19, 2020 |
| Developmental and epileptic encephalopathy, 4 | 1 | Nov 19, 2020 |
| Developmental and epileptic encephalopathy, 8 | 1 | Nov 19, 2020 |
| Dias-Logan syndrome | 1 | Nov 19, 2020 |
| Dystonia 28, childhood-onset | 1 | Nov 19, 2020 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Nov 19, 2020 |
| Epilepsy, familial focal, with variable foci 1 | 3 | Apr 26, 2020 |
| Episodic ataxia, type 9 | 4 | Nov 19, 2020 |
| FG syndrome 2 | 3 | Apr 26, 2020 |
| Fanconi renotubular syndrome 3 | 2 | Apr 26, 2020 |
| Feingold syndrome type 1 | 2 | Apr 26, 2020 |
| Fibrous dysplasia of jaw | 3 | Mar 26, 2020 |
| Floating-Harbor syndrome | 1 | Nov 19, 2020 |
| Genitopatellar syndrome | 1 | Nov 19, 2020 |
| Glutamate pyruvate transaminase 2 deficiency | 2 | Feb 22, 2021 |
| Greig cephalopolysyndactyly syndrome | 4 | Apr 26, 2020 |
| Hao-Fountain syndrome | 1 | Nov 19, 2020 |
| Heterotopia, periventricular, X-linked dominant | 1 | Nov 19, 2020 |
| Intellectual developmental disorder 62 | 1 | Nov 19, 2020 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Nov 19, 2020 |
| Intellectual disability, X-linked 101 | 1 | Nov 19, 2020 |
| Intellectual disability, X-linked 102 | 2 | Nov 19, 2020 |
| Intellectual disability, X-linked 49 | 1 | Nov 19, 2020 |
| Intellectual disability, X-linked 93 | 1 | Nov 19, 2020 |
| Intellectual disability, X-linked 99 | 1 | Nov 19, 2020 |
| Intellectual disability, autosomal dominant 13 | 5 | Apr 26, 2020 |
| Intellectual disability, autosomal dominant 14 | 1 | Nov 19, 2020 |
| Intellectual disability, autosomal dominant 22 | 1 | Nov 19, 2020 |
| Intellectual disability, autosomal dominant 29 | 1 | Nov 19, 2020 |
| Intellectual disability, autosomal dominant 46 | 1 | Nov 19, 2020 |
| Intellectual disability, autosomal dominant 50 | 1 | Nov 19, 2020 |
| Intellectual disability, autosomal dominant 53 | 1 | Nov 19, 2020 |
| Intellectual disability, autosomal dominant 56 | 2 | Nov 19, 2020 |
| Intellectual disability, autosomal dominant 6 | 2 | Nov 19, 2020 |
| Intellectual disability, autosomal recessive 13 | 2 | Apr 26, 2020 |
| Intellectual disability, autosomal recessive 63 | 1 | Nov 19, 2020 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Nov 19, 2020 |
| KBG syndrome | 2 | Nov 19, 2020 |
| Kabuki syndrome 1 | 1 | Nov 19, 2020 |
| Kabuki syndrome 2 | 1 | Nov 19, 2020 |
| Lamb-Shaffer syndrome | 1 | Nov 19, 2020 |
| Lissencephaly due to LIS1 mutation | 1 | Apr 26, 2020 |
| Lissencephaly due to TUBA1A mutation | 3 | Apr 26, 2020 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Apr 26, 2020 |
| MASA syndrome | 1 | Nov 19, 2020 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Apr 26, 2020 |
| Mandibulofacial dysostosis-microcephaly syndrome | 4 | Apr 26, 2020 |
| Meier-Gorlin syndrome 3 | 2 | Apr 26, 2020 |
| Melnick-Needles syndrome | 1 | Nov 19, 2020 |
| Merosin deficient congenital muscular dystrophy | 2 | Jun 8, 2022 |
| Metachondromatosis | 1 | Mar 26, 2020 |
| Microcephalic osteodysplastic primordial dwarfism type II | 4 | Apr 26, 2020 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 1 | Apr 26, 2020 |
| Microcephaly 18, primary, autosomal dominant | 1 | Apr 26, 2020 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 5 | Apr 26, 2020 |
| Microcephaly 3, primary, autosomal recessive | 5 | Apr 26, 2020 |
| Microcephaly 4, primary, autosomal recessive | 2 | Apr 26, 2020 |
| Microcephaly 5, primary, autosomal recessive | 18 | Apr 26, 2020 |
| Microcephaly 6, primary, autosomal recessive | 3 | Apr 26, 2020 |
| Microcephaly 8, primary, autosomal recessive | 4 | Apr 26, 2020 |
| Microcephaly 9, primary, autosomal recessive | 3 | Apr 26, 2020 |
| Microcephaly and chorioretinopathy 1 | 4 | Apr 26, 2020 |
| Microcephaly and chorioretinopathy 2 | 1 | Apr 26, 2020 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 11 | Apr 26, 2020 |
| Microcephaly, seizures, and developmental delay | 5 | Apr 26, 2020 |
| Microcephaly, short stature, and limb abnormalities | 1 | Apr 26, 2020 |
| Mowat-Wilson syndrome | 1 | Apr 26, 2020 |
| Neurofibromatosis-Noonan syndrome | 3 | Mar 26, 2020 |
| Nicolaides-Baraitser syndrome | 2 | Nov 19, 2020 |
| Noonan syndrome | 190 | Feb 7, 2022 |
| Noonan syndrome with multiple lentigines | 4 | Mar 26, 2020 |
| Okur-Chung neurodevelopmental syndrome | 1 | Nov 19, 2020 |
| Osteodysplastic primordial dwarfism, type 1 | 7 | Apr 26, 2020 |
| Oto-palato-digital syndrome, type I | 1 | Nov 19, 2020 |
| Oto-palato-digital syndrome, type II | 1 | Nov 19, 2020 |
| PMM2-congenital disorder of glycosylation | 1 | Apr 26, 2020 |
| Periventricular nodular heterotopia 6 | 1 | Apr 26, 2020 |
| Phelan-McDermid syndrome | 2 | Nov 19, 2020 |
| Pituitary adenoma 5, multiple types | 1 | Nov 19, 2020 |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 1 | Nov 19, 2020 |
| Pontocerebellar hypoplasia type 1B | 2 | Apr 26, 2020 |
| Rare genetic intellectual disability | 57 | Mar 26, 2020 |
| Renpenning syndrome | 3 | Nov 19, 2020 |
| Rett syndrome | 1 | Nov 19, 2020 |
| Rett syndrome, congenital variant | 5 | Nov 19, 2020 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 3 | Apr 26, 2020 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 3 | Apr 26, 2020 |
| Schinzel-Giedion syndrome | 1 | Nov 19, 2020 |
| Schizophrenia 15 | 2 | Nov 19, 2020 |
| Schuurs-Hoeijmakers syndrome | 1 | Nov 19, 2020 |
| Seckel syndrome 1 | 1 | Apr 26, 2020 |
| Seckel syndrome 6 | 2 | Apr 26, 2020 |
| Seizures, benign familial infantile, 3 | 4 | Nov 19, 2020 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Nov 19, 2020 |
| Severe neonatal-onset encephalopathy with microcephaly | 2 | Nov 19, 2020 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 2 | Apr 26, 2020 |
| Sotos syndrome | 1 | Nov 19, 2020 |
| Syndromic X-linked intellectual disability 14 | 1 | Nov 19, 2020 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Nov 19, 2020 |
| Syndromic X-linked intellectual disability Lubs type | 1 | Nov 19, 2020 |
| Syndromic X-linked intellectual disability Najm type | 4 | Apr 26, 2020 |
| Usher syndrome type 1D | 1 | Nov 19, 2020 |
| Van Maldergem syndrome 1 | 2 | Apr 26, 2020 |
| Wiedemann-Steiner syndrome | 2 | Nov 19, 2020 |
| X-linked complicated corpus callosum dysgenesis | 1 | Nov 19, 2020 |
| X-linked hydrocephalus syndrome | 1 | Nov 19, 2020 |
| X-linked intellectual disability Cabezas type | 2 | Nov 19, 2020 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Nov 19, 2020 |
| ZTTK syndrome | 1 | Nov 19, 2020 |
