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DOID:0070048 - GAND syndrome
Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3.
Synonyms: autosomal dominant intellectual developmental disorder 18, autosomal dominant mental retardation 18, autosomal dominant non-syndromic intellectual disability 18, MRD18
Xenbase Genes
:
gatad2b
| MONDO:0014034 - severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| MIM:615074 - GAND SYNDROME; GAND |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee