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GENATLAS PHENOTYPE

last update : 03-04-2013

Symbol	OHDOX
Location	Xq13.1
Name	Ohdo syndrome X-linked
Other name(s)	Maat-Kievit-Brunner
Corresponding gene	MED12
Other symbol(s)	MKV
Main clinical features	intellectual disability (ID) and typical facial features, including blepharophimosis facial coarsening with thick alae nasi and a triangular face at older age
Genetic determination	sex linked
Function/system disorder	neurology
	mental retardation
Type	disease

Remark(s)

MED12 mutations in Ohdo syndrome impair the repressive function of MED12, and aberrant chromatin modification is central to the pathogenesis of Ohdo syndrome. (PMID: 23395478))