OBO ID: DOID:0111845 |
Term Name: | Mullegama-Klein-Martinez syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111845 ) |
OTHER Mullegama-Klein-Martinez syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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