Mullegama-Klein-Martinez syndrome

Term ID

DOID:0111845

Synonyms

• MKMS
• NEDXCF
• X-linked neurodevelopmental disorder with craniofacial abnormalities

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)

References

• MIM:301022

Ontology

Human Disease   ( DOID:0111845 )