Abderhalden-Kaufmann-Lignac syndrome

Overview

Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea

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* Developmental delay * Dwarfism * Rickets * Osteoporosis * Renal tubular disease * Aminoaciduria * Glucose in the urine * Low blood potassium levels * Cysteine deposits in conjunctiva of eye * Cysteine deposits in cornea

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