DISEASES

Disease-gene associations mined from literature

Human genes for non-syndromic X-linked intellectual disability 30

Non-syndromic X-linked intellectual disability 30 [DOID:0112051]

A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in PAK3 on chromosome Xq23.

Synonyms:  non-syndromic X-linked intellectual disability 30,  DOID:0112051,  nonsyndromic Xlinked intellectual disability 30,  MRX30,  MRX47 ...