Version: 8.0.0
Date: Tue Jan 28 2025
syndromic X-linked intellectual disability 14
DOID:0060821
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

syndromic X-linked intellectual disability 14

Definition
A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24.
Synonyms
  • mental retardation, X-linked, syndromic 14
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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