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GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death; OMIM 603358) is a rare metabolic disorder with autosomal recessive mode of inheritance. So far it has been diagnosed only in patients with Finnish ancestors. The GRACILE locus has been positioned to a restricted region of chromosome 2q33-37, but the causative gene remains to be identifie
