- Cerebral cholesterinosis
- Sterol 27-hydroxylase deficiency
- Chronic diarrhea (infancy)
- Cataracts (early childhood)
- Mental impairment (infancy or at puberty)
- Xanthomas (adolescents to early adulthood)
- Dementia with slow deterioration in intellectual abilities (early adulthood)
- Spasticity (early adulthood)
- Cerebellar signs such as intention tremor, difficulty with fast hand movements, nystagmus, truncal ataxia, and rhomberg's sign) (early adulthood)
- Behavioral changes (early adulthood)
- Hallucinations (early adulthood)
- Agitation (early adulthood)
- Aggression (early adulthood)
- Depression (early adulthood)
- Suicide attempt (early adulthood)
- Other symptoms may include dystonia, atypical parkinsonism, seizures, and peripheral neuropathy.
The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebrotendinous xanthomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Federico A, Dotti MT, Gallus GN. Cerebrotendinous Xanthomatosis. GeneReviews. August 1, 2013; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ctx. Accessed 9/12/2013.