ataxia-telangiectasia-like disorder
MONDO:0011457Mondo
Findings
No curated finding names ataxia-telangiectasia-like disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011457), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
3 names
Resolves to: ataxia-telangiectasia-like disorder
- Also called
- ataxia - telangiectasia-like disorderataxia-telangiectasia-like disorder type 1ATLD