Desmosterolosis

Orpha code: 35107OMIM code: 602398

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.

Disease data
Classification

Disease

ORPHA code
35107
OMIM code
602398
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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