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syndromic X-linked intellectual disability 14
Summary
- Synonym
-
- mental retardation, X-linked, syndromic 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060821
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
