Description : Ataxia-telangiectasia-like disorder is an autosomal recessive disorder characterized
clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor
apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation,
consistent with a defect in DNA repair. The disorder shares some phenotypic features
of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are
not present in ATLD (summary by Hernandez et al., 1993 and Stewart et al., 1999).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the homolog of the S. Cerevisiae meiotic recombination 11 A
gene (MRE11A, 600814.0001);
Laboratory abnormalities : Cells show increased sensitivity to ionizing radiation; Defective DNA repair; Chromosomal instability;