Дезмостеророз
ORPHA:35107· ICD-10 Q87.8· Desmosterolosis
Визначення(English summary)
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Infancy, Neonatal