Version: 8.0.0
Date: Tue Jan 28 2025
syndromic X-linked intellectual disability 34
DOID:0060817
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

syndromic X-linked intellectual disability 34

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.
Synonyms
  • macrocephaly-intellectual disability-left ventricular non compaction syndrome
  • mental retardation, X-linked, syndromic 34
Cross References
Parent Terms
Child Terms
None
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