Simpson-Golabi-Behmel syndrome 2

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.

Systematic

Simpson-Golabi-Behmel syndrome
	Simpson-Golabi-Behmel syndrome 1
	Simpson-Golabi-Behmel syndrome 2
		OFD1

References:

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