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Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline

Summary

Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is characterized by the onset of progressive gait and truncal ataxia in early childhood. Affected individuals have muscle weakness and atrophy and sensorimotor axonal neuropathy; some may lose ambulation. Additional features include cognitive decline or learning disabilities. Brain imaging shows cerebellar atrophy (Delle Vedove et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CONDCAC, GPIAP1, GPIP137, GRIP137, M11S1, NEDLAAD, RNG105, p137GPI, CAPRIN1
    Summary: cell cycle associated protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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