Term Name: Helsmoortel-Van Der Aa Syndrome
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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder