Desmosterolosis
ORPHA:35107· ICD-10 Q87.8
Definition
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal