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Desmosterolosis

Disease Export to PDF
Name:
Desmosterolosis
Description:
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
ORPHAcode:
35107
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
DHCR24
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14