| Metadata | |
|---|---|
| ID | DOID:0070048 |
| Name | GAND syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/31949314/, https://www.ncbi.nlm.nih.gov/pubmed/23033978 |
| Xrefs | |
| Synonyms |
autosomal dominant intellectual developmental disorder 18 [EXACT] autosomal dominant mental retardation 18 [EXACT] autosomal dominant non-syndromic intellectual disability 18 [EXACT] MRD18 [EXACT] |
| Parent Relationships |