Desmosterolosis
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol
Press Enter · cited answer in seconds
0 sources
Desmosterolosis
Summary
Desmosterolosis is a developmental defect during embryogenesis[1].
Key Facts
- Desmosterolosis's instance of is recorded as developmental defect during embryogenesis[2].
- Desmosterolosis's instance of is recorded as rare disease[3].
- Desmosterolosis's instance of is recorded as class of disease[4].
- Desmosterolosis is a type of sterol biosynthesis disorder[5].
- Desmosterolosis is a type of neonatal osteosclerotic dysplasia[6].
- Desmosterolosis is a type of rare dyslipidemia[7].
- Desmosterolosis's ICD-9-CM is recorded as 272.8[8].
- Desmosterolosis's genetic association is recorded as DHCR24[9].
- Desmosterolosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_35107[10].