C210892Level 10
Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive condition caused by mutation(s) in the SQSTM1 gene, encoding sequestosome-1. It is characterized by childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP).
**Synonyms:** - NADGP
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