DISEASES

Disease-gene associations mined from literature

Human genes for syndromic X-linked intellectual disability 34

Syndromic X-linked intellectual disability 34 [DOID:0060817]

A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13.

Synonyms:  syndromic X-linked intellectual disability 34,  DOID:0060817,  syndromic Xlinked intellectual disability 34,  macrocephaly-intellectual disability-left ventricular non compaction syndrome,  mental retardation, X-linked, syndromic 34 ...