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.
|Simpson-Golabi-Behmel syndrome 1|
|Simpson-Golabi-Behmel syndrome 2|
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.[^]
OMIM.ORG articleOmim 300209 [^]