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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 18

Intellectual disability, autosomal recessive 18

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY

Summary

MRT18 is an autosomal recessive disorder characterized by impaired intellectual development with or without epilepsy. Other features may include spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography (summary by Trehan et al., 2015). [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARC130, CRSP130, CRSP133, CRSP3, DRIP130, MRT18, SUR-2, SUR2, MED23
    Summary: mediator complex subunit 23

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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