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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
Ontology
Human Disease   ( DOID:0060821 )
Relationships
is a type of
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Genes Involved
Zebrafish Models