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DOID:0111845 - Mullegama-Klein-Martinez syndrome
Disease Ontology 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.
Synonyms: MKMS, NEDXCF, X-linked neurodevelopmental disorder with craniofacial abnormalities,
Xenbase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee