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syndromic X-linked intellectual disability 14 (DOID:0060821)
Synonyms: mental retardation, X-linked, syndromic 14
Alt IDs: OMIM:300676, ICD10CM:Q87.8, MESH:C537923, 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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory