Ataxia-telangiectasia-like disorder

Orpha code: 251347OMIM code: 604391

Definicja

A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.

Disease data
Klasyfikacja

Disease

Synonimy
ATLD
ATLD
Kod ORPHA
251347
Kod OMIM
604391
Kod ICD10
G11.3
Kod ICD11
4A01.31

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl