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GTR Home > Conditions/Phenotypes > Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

Summary

Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is an autosomal recessive progressive disorder with onset of symptoms in the first decade. Brain imaging may show variable features, including leukoencephalopathy and cerebellar atrophy (summary by Fagerberg et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD92, CDW92, CHTL1, CONATOC, CTL1, SLC44A1
    Summary: solute carrier family 44 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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