Term Name: Simpson-Golabi-Behmel syndrome type 1
Synonyms: bulldog syndrome, DGSX Golabi-Rosen syndrome, Golabi-Rosen syndrome, Sara Angers syndrome, SGB syndrome, Simpson dysmorphia syndrome, X-linked dysplasia gigantism syndrome
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.
Ontology: Human Disease [DOID:0060248]   ( DOID:0060248 )

Relationships
is a type of: syndrome X-linked recessive disease