Simpson-Golabi-Behmel syndrome type 2 is an X-linked multiple congenital anomalies syndrome caused by mutations of the OFD1 gene. It is characterized by pre- and postnatal overgrowth, craniofacial and other congenital malformations, organomegaly, and an increased tumor risk.
Simpson-Golabi-Behmel syndrome | ||||
Simpson-Golabi-Behmel syndrome 1 | ||||
Simpson-Golabi-Behmel syndrome 2 | ||||
OFD1 | ||||
1. |
Budny B et al. (2006) A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. |
2. |
OMIM.ORG article Omim 300209 |