syndromic X-linked intellectual disability 34 (DOID:0060817)
Alliance: disease page
Synonyms: macrocephaly-intellectual disability-left ventricular non compaction syndrome; mental retardation, X-linked, syndromic 34; MRXS34; MRXSML; syndromic X-linked mental retardation Mircsof-Langouet type
Alt IDs: OMIM:300967, ORDO:466791
Definition: 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.