| Metadata | |
|---|---|
| ID | DOID:0070073 |
| Name | autosomal dominant intellectual developmental disorder 43 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/27003583, https://pubmed.ncbi.nlm.nih.gov/27003583/ |
| Xrefs | |
| Synonyms |
autosomal dominant mental retardation 43 [EXACT] autosomal dominant non-syndromic intellectual disability 43 [EXACT] MRD43 [EXACT] |
| Parent Relationships |