Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described. Disease data Classification Malformation syndrome Synonyms SMO deficiency Niedobór sterol-C4-metylo oksydazy Sterol-C4-methyl oxidase deficiency ORPHA code 488168 OMIM code 616834 ICD10 code E88.8 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