OBO ID: DOID:0111845
Term Name: Mullegama-Klein-Martinez syndrome Search Ontology:
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 STAG2 on chromosome Xq25. (2)
References:
Ontology: Human Disease   (DOID:0111845)
OTHER Mullegama-Klein-Martinez syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STAG2 Mullegama-Klein-Martinez syndrome 301022
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None