Term Name: | syndromic X-linked intellectual disability 34 |
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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 |
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. |
Ontology: | Human Disease [DOID:0060817] ( DOID:0060817 ) |