An inherited (autosomal recessive) neurological disorder. Ataxia is usually noted early in life, and a key feature is the presence of dilated blood vessels visible in the sclerae of the eyes and on the cheeks and ears. Other symptoms may include slow slurred speech, abnormal eye movements, skin lesions, and immune deficiency. Affected individuals may develop malignant disease. A raised level of alpha-fetoprotein is found in the blood.
Subjects: Medicine and Health — Chemistry.