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Definition

An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay.

Acronym

MCCPD

Synonyms

SC4MOL deficiency

Keywords

Cataract