Human genes for Mullegama-Klein-Martinez syndrome
Mullegama-Klein-Martinez syndrome [DOID:0111845]
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 STAG2 on chromosome Xq25.
Synonyms: Mullegama-Klein-Martinez syndrome, DOID:0111845, MullegamaKleinMartinez syndrome, Mullegama-Klein-Martinez disease, Mullegama-Klein-Martinez disorder ...