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hepatomegaly
Mitochondrial DNA Depletion Syndrome 3
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Cataracts, Congenital, with Brain Hemorrhage and Subependymal Calcification
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Peroxisome Biogenesis Disorder 3B (Infantile Refsum Disease)
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KID Syndrome
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Morquio Syndrome (MPS IVB)
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Peroxisome Biogenesis Disorder 1B (neonatal adrenoleukodystrophy)
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Galactose Epimerase Deficiency
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Galactosemia
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Tangier Disease
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