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GTR Home > Conditions/Phenotypes > Neurodegeneration, childhood-onset, with cerebellar atrophy

Neurodegeneration, childhood-onset, with cerebellar atrophy

Summary

Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a severe autosomal recessive neurodevelopmental disorder affecting the central and peripheral nervous system. Patients present in the first year of life with global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. The severity is variable, but death in childhood may occur (Shashi et al., 2018). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CCP1, CONDCA, NNA1, AGTPBP1
    Summary: ATP/GTP binding carboxypeptidase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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