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DO Term : syndromic X-linked intellectual disability 34 [DOID:0060817] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • macrocephaly-intellectual disability-left ventricular non compaction syndrome,
  • ORDO:466791,
  • syndromic X-linked mental retardation Mircsof-Langouet type,
  • MRXSML,
  • MRXS34,
  • 300967,
  • mental retardation, X-linked, syndromic 34,
  • OMIM:300967
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