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 |