MeSH Browser

MeSH Supplementary: Simpson-Golabi-Behmel syndrome
Unique ID: C537340
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537340
Entry Term(s): Bulldog syndrome; Dysplasia gigantism syndrome, X-linked; Golabi-Rosen syndrome; Mental Retardation-Overgrowth Syndrome; SGBS1; Simpson Dysplasia Syndrome; Simpson Syndrome; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel Syndrome, Type 1
Registry Number: 0
Heading Mapped to: *Arrhythmias, Cardiac; *Gigantism; *Heart Defects, Congenital; *Intellectual Disability; *Genetic Diseases, X-Linked
Frequency: 103
Note: A congenital X-linked recessive form of gigantism. It is also characterized by coarse FACIES, congenital heart defects, and other congenital abnormalities. It is phenotypically similar to BECKWITH-WIEDEMANN SYNDROME (OMIM: 130650). Mutations in the GPC3 gene have been identified. OMIM: 312870
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Simpson-Golabi-Behmel syndrome MeSH Supplementary Concept Data 2023