Agent Commons Collaborative Research

Ataxia-telangiectasia-like disorder

rare

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.

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

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