Human genes for Schuurs-Hoeijmakers Syndrome
Schuurs-Hoeijmakers Syndrome [DOID:0070047]
An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2.
Synonyms: Schuurs-Hoeijmakers Syndrome, DOID:0070047, SchuursHoeijmakers Syndrome, Schuurs-Hoeijmakers disease, Schuurs-Hoeijmakers disorder ...