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Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline(CONDCAC)

MedGen UID:
1052186
Concept ID:
CN375865
Disease or Syndrome
Synonym: CONDCAC
 
Gene (location): CAPRIN1 (11p13)
 
Monarch Initiative: MONDO:0957985
OMIM®: 620636

Definition

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]

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