Term Name: | GAND syndrome |
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Synonyms: | autosomal dominant intellectual developmental disorder 18, autosomal dominant mental retardation 18, autosomal dominant non-syndromic intellectual disability 18, MRD18 |
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. |
Ontology: | Human Disease [DOID:0070048] ( DOID:0070048 ) |