DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for Schuurs-Hoeijmakers Syndrome

Schuurs-Hoeijmakers Syndrome [DOID:0070047]

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.

Synonyms:  Schuurs-Hoeijmakers Syndrome,  DOID:0070047,  SchuursHoeijmakers Syndrome,  Schuurs-Hoeijmakers disease,  Schuurs-Hoeijmakers disorder ...