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Disease definition

Lathosterolosis 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.


  • Synonym(s):
    • Sterol C5-desaturase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 607330
  • UMLS: C1846421
  • MeSH: C537880
  • GARD: 9711
  • MedDRA: -

Detailed information


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