DISEASES

Disease-gene associations mined from literature

Human genes for Simpson-Golabi-Behmel syndrome type 1

Simpson-Golabi-Behmel syndrome type 1 [DOID:0060248]

A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26.

Synonyms:  Simpson-Golabi-Behmel syndrome type 1,  DOID:0060248,  SimpsonGolabiBehmel syndrome type 1,  bulldog syndrome,  DGSX Golabi-Rosen syndrome ...