CYP27A1
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Cataracts
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Leukodystrophy - white matter disease
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Hereditary neuropathies (includes Charcot-Marie-Tooth)
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Hereditary spastic paraparesis
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Epilepsy
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Ataxia
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Cytopenias and inborn errors of immunity
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Congenital diarrhea
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Cholestasis
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Familial hypercholesterolemia
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Dystonia, chorea and other hyperkinetic movement disorders
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Leukodystrophy- White Matter Disease Early Onset