ORPHA:909
Cerebrotendinous xanthomatosis
Also called CTX, Sterol 27-hydroxylase deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- 1-9 / 100 000 (Specific population)
- Rarity class
- 1-9 / 100 000
ORPHA:909 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Visual impairment
- Juvenile cataract
- Abnormal enzyme/coenzyme activity
- Abnormality of finger
- Intellectual disability
- Seizure