Simpson-Golabi-Behmel syndrome type 1 (DOID:0060248)
Alliance: disease page
Synonyms: bulldog syndrome; DGSX Golabi-Rosen syndrome; Golabi-Rosen syndrome; Sara Angers syndrome; SGB syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome
Alt IDs: OMIM:312870, MESH:C537340, NCI:C118787, ORDO:373, UMLS_CUI:C0796154
Definition: 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 (GPC3) on chromosome Xq26.