an inherited (autosomal recessive) neurological disorder. ataxia is usually noted early in life. Mental retardation, growth retardation, abnormal eye movements, skin lesions, and immune deficiency may be found. Affected individuals may develop malignant disease. A raised level of alpha-fetoprotein is found in the blood, and a key feature is the presence of prominent blood vessels visible on the sclerae of the eyes.
Medical dictionary. 2011.