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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.

external link
2.

OMIM.ORG article

Omim 300209 external link
Update: Aug. 14, 2020
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