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Ataxia-telangiectasia-like disorder
rareAn 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.
- Identifiers
- MONDO:0011457
- Also known as
- ataxia - telangiectasia-like disorder · ataxia-telangiectasia-like disorder 1 · ataxia-telangiectasia-like disorder type 1 · ATLD · ATLD1
Subtypes
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