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GTR Home > Conditions/Phenotypes > Intellectual disability, X-linked 30

Intellectual disability, X-linked 30

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30; MENTAL RETARDATION, X-LINKED 47

Summary

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene. [from MONDO]

Available tests

28 tests are in the database for this condition.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARA, MRX30, MRX47, OPHN3, PAK-3, PAK3beta, XLID30, bPAK, beta-PAK, PAK3
    Summary: p21 (RAC1) activated kinase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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