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ataxia-telangiectasia-like disorder

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0011457:  ataxia-telangiectasia-like disorder
DC:0000668: 
MESH:C565779: 
OMIMPS:604391: 
SCTID:700058006: 
UMLS:CN239583: