C132224Level 6
Ataxia-Telangiectasia-Like Disorder 1
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.
**Synonyms:** - ATLD - ATLD1 - Ataxia-Telangiectasia-Like Disorder
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