ORPHA:35107
Desmosterolosis
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:35107 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Cleft palate
- Submucous cleft hard palate
- Bifid uvula
- Microcephaly
- Retrognathia
- Micrognathia