Preferred Label : X-Linked Ohdo Syndrome;
NCIt synonyms : OHDOX; Blepharophimosis-Intellectual Disability Syndrome, MKB Type;
NCIt 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.;
Origin ID : C206528;
concept_is_in_subset
- disease_mapped_to_gene
