Search Ontology:
Human Disease
syndromic X-linked intellectual disability 14
- Term ID
- DOID:0060821
- 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. (2)
- References
-
- MESH:C537724
- MIM:300676
- ORDO:323
- ORDO:776
- SNOMEDCT_US_2023_03_01:422437002
- UMLS_CUI:C0796022
- Ontology
- Human Disease ( DOID:0060821 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models