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References OMIM Gene GeneReviews HGMD HGNC
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
  • 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))