Term Name: | Mullegama-Klein-Martinez syndrome |
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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 ) |