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Human Disease

Mullegama-Klein-Martinez syndrome

Term ID
DOID:0111845
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. (2)
References
Ontology
Human Disease   ( DOID:0111845 )
Relationships
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Genes Involved
Zebrafish Models