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Metadata
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

OMIM:301022

Synonyms

MKMS [EXACT]

NEDXCF [EXACT]

X-linked neurodevelopmental disorder with craniofacial abnormalities [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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