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Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Disease 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.

ORPHA:488168

Classification level: Disorder
  • Synonym(s):
    • SMO deficiency
    • Sterol-C4-methyl oxidase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: -
  • OMIM: 616834
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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