Ataxia-telangiectasia-like disorder
Ataxia-telangiectasia-like disorder
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.
Also known as ataxia - telangiectasia-like disorder, ataxia-telangiectasia-like disorder type 1, ATLD — per MONDO