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cerebrotendinous xanthomatosis
Summary
- Synonym
-
- Cholestanol storage disease
- Definition
- A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
- Super Class
- xanthomatosis
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001118 | Juvenile cataract |
| HP:0001138 | Optic neuropathy |
| HP:0001155 | Abnormality of the hand |
| HP:0001167 | Abnormal finger morphology |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001272 | Cerebellar atrophy |
