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Simpson-Golabi-Behmel syndrome

Disease Summary
Associated Targets (5)
Tbio

4

Tdark

1


Mondo Description Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
Mondo Term and Equivalent IDs
MONDO:0010731:  Simpson-Golabi-Behmel syndrome
GARD:0007649: 
MESH:C537340: 
NCIT:C131002: 
Orphanet:373: 
SCTID:439143004: