FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Mullegama-Klein-Martinez syndrome ID (Ontology) DOID:0111845 (Human Disease)
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.
Also Known As "MKMS" ; "NEDXCF" ; "X-linked neurodevelopmental disorder with craniofacial abnormalities"
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 Genes
 Mullegama-Klein-Martinez syndrome       2
 for disease ribbon | Mullegama-Klein-Martinez syndrome       2
 model of | Mullegama-Klein-Martinez syndrome       2
Spanning Tree (Parents/Children)
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__Mullegama-Klein-Martinez syndrome  2 rec.
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Is a syndromic X-linked intellectual disability
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Synonyms
  • "MKMS" EXACT OMO:0003012
    "NEDXCF" EXACT OMO:0003012
    "X-linked neurodevelopmental disorder with craniofacial abnormalities" EXACT
Secondary IDs
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MIM:301022