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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 34

Intellectual disability, autosomal recessive 34

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY

Summary

MRT34 is an autosomal recessive neurologic disorder characterized by mildly to moderately impaired intellectual development and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016). [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRT34, RAIDD, CRADD
    Summary: CASP2 and RIPK1 domain containing adaptor with death domain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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