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GTR Home > Conditions/Phenotypes > Intellectual disability and myopathy syndrome

Intellectual disability and myopathy syndrome

Summary

Intellectual disability and myopathy syndrome (IDMYS) is an autosomal recessive developmental disorder characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging. Variable additional features may include sensorineural hearing loss, dysmorphic facies, and progressive heart disease (summary by Smeland et al., 2019). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC37, ATFB12, CANTU, CMD1O, IDMYS, SUR2, ABCC9
    Summary: ATP binding cassette subfamily C member 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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