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Peroxisomal Acyl-CoA Oxidase Deficiency
A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that is caused by homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
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When to seek help
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Overview
A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that is caused by homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
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