Term Name: | Simpson-Golabi-Behmel syndrome type 1 |
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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 ) |