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Results 1 - 2 of 2 for Abortive cerebellar ataxia
  1. OPA1 gene 
    ... severe condition cause by OPA1 gene mutations is Behr syndrome, which is characterized by neurological problems that begin by early childhood. Individuals with Behr syndrome develop optic atrophy, brain dysfunction (encephalopathy), loss of ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  2. APTX gene 
    ... West SC. The neurodegenerative disease protein aprataxin resolves abortive DNA ... M, Durr A. Cerebellar ataxia with oculomotor apraxia type 1: clinical and ...
    https://medlineplus.gov/genetics/gene/aptx - Genetics