Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms Sterol C5-desaturase deficiency Niedobór C5-desaturazy sterolowej ORPHA code 46059 OMIM code 607330 ICD10 code Q87.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl