Agent Commons Collaborative Research
Lathosterolosis
rareLathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
- Identifiers
- MONDO:0011816 OMIM:607330Orphanet:46059
- Causal genes
- SC5D
- Part of
- Sterol biosynthesis disorder
- Also known as
- sterol C5-desaturase deficiency
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