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GTR Home > Conditions/Phenotypes > Deafness, congenital, and adult-onset progressive leukoencephalopathy

Deafness, congenital, and adult-onset progressive leukoencephalopathy

Summary

Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is an autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Some patients may have mild developmental delay or learning difficulties in childhood, but most can function independently. The onset of motor and cognitive decline in adulthood can be rapid and may result in early death. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy (summary by Scheidecker et al., 2019). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMTRIB, DEAPLE, DFNB89, KARS, KARS2, KRS, LEPID, KARS1
    Summary: lysyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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