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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 38

Intellectual disability, autosomal dominant 38

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38; PSYCHOMOTOR RETARDATION, EPILEPSY, AND LANGUAGE DISABILITY SYNDROME

Summary

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene. [from MONDO]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE33, EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN, STNL, EEF1A2
    Summary: eukaryotic translation elongation factor 1 alpha 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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