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Up to: Inherited lipid metabolism disorder

CYP7B1-related disorder of oxysterol accumulation

Any disorder of oxysterol accumulation caused by biallelic loss of function variants in the CYP7B1 gene. A disorder of oxysterol accumulation is a condition where there is an abnormal buildup of oxysterols, which are oxidized cholesterol derivatives, in the body.

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Hereditary spastic paraplegia 5A 2 trials
Congenital bile acid synthesis defect 3 0 trials