Ataxia-telangiectasia-like disorder

Orpha code: 251347OMIM code: 604391

Definition

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
Classification

Disease

Synonyms
ATLD
ATLD
ORPHA code
251347
OMIM code
604391
ICD10 code
G11.3
ICD11 code
4A01.31

No additional description.

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