The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of vision | Very frequent (present in 80%-99% of cases) |
| Cataract | Very frequent (present in 80%-99% of cases) |
| Intellectual disability | Very frequent (present in 80%-99% of cases) |
| Myoclonus | Very frequent (present in 80%-99% of cases) |
| Xanthelasma | Very frequent (present in 80%-99% of cases) |
| Abnormal pyramidal signs | Frequent (present in 30%-79% of cases) |
| Abnormality of extrapyramidal motor function | Frequent (present in 30%-79% of cases) |
| Abnormality of the periventricular white matter | Frequent (present in 30%-79% of cases) |
| Angina pectoris | Frequent (present in 30%-79% of cases) |
| Depression | Frequent (present in 30%-79% of cases) |
| Developmental regression | Frequent (present in 30%-79% of cases) |
| Dystonia | Frequent (present in 30%-79% of cases) |
| Hallucinations | Frequent (present in 30%-79% of cases) |
| Hypercholesterolemia | Frequent (present in 30%-79% of cases) |
| Hyperreflexia | Frequent (present in 30%-79% of cases) |
| Myocardial infarction | Frequent (present in 30%-79% of cases) |
| Neurological speech impairment | Frequent (present in 30%-79% of cases) |
| Peripheral neuropathy | Frequent (present in 30%-79% of cases) |
| Spasticity | Frequent (present in 30%-79% of cases) |
| Tremor | Frequent (present in 30%-79% of cases) |
| Cerebral calcification | Occasional (present in 5%-29% of cases) |
| Cholestasis | Occasional (present in 5%-29% of cases) |
| Diarrhea | Occasional (present in 5%-29% of cases) |
| EEG abnormality | Occasional (present in 5%-29% of cases) |
| Joint dislocation | Occasional (present in 5%-29% of cases) |
| Joint stiffness | Occasional (present in 5%-29% of cases) |
| Malabsorption | Occasional (present in 5%-29% of cases) |
| Nephrolithiasis | Occasional (present in 5%-29% of cases) |
| Seizures | Occasional (present in 5%-29% of cases) |
| Abnormality of central somatosensory evoked potentials | - |
| Abnormality of cholesterol metabolism | - |
| Abnormality of the dentate nucleus | - |
| Ataxia | - |
| Autosomal recessive inheritance | - |
| Cerebellar atrophy | - |
| Cerebral atrophy | - |
| Cholelithiasis | - |
| Delusions | - |
| Dementia | - |
| EEG with generalized slow activity | - |
| EMG: axonal abnormality | - |
| Optic disc pallor | - |
| Osteoporosis | - |
| Pseudobulbar paralysis | - |
| Respiratory insufficiency | - |
| Tendon xanthomatosis | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The following diseases are related to Cerebrotendinous xanthomatosis. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I believe my daughter may have cerebrotendinous xanthomatosis. Can you provide me with more information on this condition? See answer
