ataxia-telangiectasia-like disorder
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:0019293
skin vascular disease
excluded_subClassOf
MONDO:0024237
inherited neurodegenerative disorder
is_a
ATLD
exact
ATLD1
related
ataxia - telangiectasia-like disorder
exact
ataxia-telangiectasia-like disorder 1
related
ataxia-telangiectasia-like disorder type 1
exact
SPBC16D10.09 SPCC18.09c SPAC13C5.07