Term Name: | Helsmoortel-Van Der Aa Syndrome |
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Synonyms: | autosomal dominant mental retardation 28, HVDAS, MRD28 |
Definition: | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. |
Ontology: | Human Disease [DOID:0070058] ( DOID:0070058 ) |