Metadata | |
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ID | DOID:0111845 |
Name | Mullegama-Klein-Martinez syndrome |
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. https://www.ncbi.nlm.nih.gov/pubmed/28296084, https://www.ncbi.nlm.nih.gov/pubmed/30765867 |
Xrefs | |
Synonyms |
MKMS [EXACT] NEDXCF [EXACT] X-linked neurodevelopmental disorder with craniofacial abnormalities [EXACT] |
Parent Relationships |