Term Name: | syndromic X-linked intellectual disability 14 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0060821] ( DOID:0060821 ) |