|OBO ID: DOID:0111845|
|Term Name:||Mullegama-Klein-Martinez syndrome||Search 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 STAG2 on chromosome Xq25. (2)|
|Ontology:||Human Disease (DOID:0111845)|
|is a type of:||
OTHER Mullegama-Klein-Martinez syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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