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
• OMIM:300676
• ORDO:323
• ORDO:776
• SNOMEDCT_US_2023_03_01:422437002
• UMLS_CUI:C0796022

Ontology

Human Disease   ( DOID:0060821 )