Ataxia-telangiectasia-like disorder-1 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 ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999).
Genetic Heterogeneity of Ataxia-Telangiectasia-Like Disorder
See also ATLD2 (615919), caused by mutation in the PCNA gene (176740) on chromosome 20p12. [from OMIM]
- MedGen UID:
- 861227
- •Concept ID:
- C4012790
- •
- Disease or Syndrome