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GTR Home > Conditions/Phenotypes > Syndromic X-linked intellectual disability 14

Syndromic X-linked intellectual disability 14

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14

Summary

Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene. [from MONDO]

Available tests

25 tests are in the database for this condition.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HUPF3B, MRX62, MRX82, MRXS14, RENT3B, UPF3BP1, UPF3BP2, UPF3BP3, UPF3X, Upf3p-X, UPF3B
    Summary: UPF3B regulator of nonsense mediated mRNA decay

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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