Ataxia-telangiectasia-like disorder

MONDO:0011457

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.

Also known as: ATLD, ataxia - telangiectasia-like disorder, ataxia-telangiectasia-like disorder type 1, ATLD1, ataxia-telangiectasia-like disorder 1

14 clinical trials for this condition and its sub-types.

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