DISEASES

Disease-gene associations mined from literature

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 ...