Term Name: Mullegama-Klein-Martinez syndrome
Synonyms: MKMS, NEDXCF, X-linked neurodevelopmental disorder with craniofacial abnormalities
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.
Ontology: Human Disease [DOID:0111845]   ( DOID:0111845 )

Relationships
is a type of: syndromic X-linked intellectual disability