X-Linked Ohdo Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked recessive condition caused by a mutation in the MED12 gene, encoding mediator of RNA polymerase II transcription subunit 12. It is characterized by intellectual disability, developmental delay, blepharophimosis, wide nasal bridge, and other associated facial features.

**Synonyms:** - Blepharophimosis-Intellectual Disability Syndrome, MKB Type - OHDOX