Term Name: Schuurs-Hoeijmakers Syndrome
Synonyms: autosomal dominant mental retardation 17, MRD17, SHMS
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.
Ontology: Human Disease [DOID:0070047]   ( DOID:0070047 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder