| Term Name: | autosomal dominant intellectual developmental disorder 43 |
|---|---|
| Synonyms: | autosomal dominant mental retardation 43, autosomal dominant non-syndromic intellectual disability 43, MRD43 |
| Definition: | An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. |
| Ontology: | Human Disease [DOID:0070073] ( DOID:0070073 ) |