syndromic X-linked intellectual disability 14 (DOID:0060821)
Alliance: disease page
Synonyms: mental retardation, X-linked, syndromic 14
Alt IDs: OMIM:300676, MESH:C537724, ORDO:323, ORDO:776, UMLS_CUI:C0796022
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.