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Definition English:
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An inborn error in cholesterol biosynthesis pathway resulting in the accumulation of MEVALONIC ACID and characterized by a range of symptoms that may include dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash. |