Mullegama-Klein-Martinez syndrome (DOID:0111845)
Alliance: disease page
Synonyms: MKMS; NEDXCF; X-linked neurodevelopmental disorder with craniofacial abnormalities
Alt IDs: OMIM:301022
Definition: A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25.