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Cerebrotendinous xanthomatosis

MONDO:0008948

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

Also known as: CTX, CTx, cerebrotendinous xanthomatosis, cholestanol storage disease, sterol 27-hydroxylase deficiency, cerebral cholesterinosis

31 clinical trials for this condition and its sub-types, 6 tagged with Cerebrotendinous xanthomatosis itself.

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