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Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory