2. Biology Dictionary
  3. Cerebellar ataxia, brain abnormalities, and cardiac conduction defects

Cerebellar ataxia, brain abnormalities, and cardiac conduction defects

Definition:

Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is a rare autosomal recessive disorder. Patients with biallelic variants in EXOSC5 have been reported. EXOSC5 encodes a structural subunit of the RNA exosome.

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