Term Name: | autosomal dominant intellectual developmental disorder 43 |
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Synonyms: | autosomal dominant mental retardation 43, autosomal dominant non-syndromic intellectual disability 43, MRD43 |
Definition: | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. |
Ontology: | Human Disease [DOID:0070073] ( DOID:0070073 ) |