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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 45

Intellectual disability, autosomal recessive 45

Summary

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene. [from MONDO]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FBX14, FBXO14, Fbx31, MRT45, pp2386, FBXO31
    Summary: F-box protein 31

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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