ataxia-telangiectasia-like disorder-1 (DOID:0081384)
Alliance: disease page
Alt IDs: OMIM:604391, ORDO:251347
Definition: An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.