LEOPARD syndrome (레오파드 증후군, 다발성 흑자 증후군)
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LOWE syndrome (로우증후군, 로웨증후군)
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Marfan syndrome (말판증후군)
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MCAD (Medium chain acyl-CoA dehydrogenase 결핍증)
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Menkes disease (멘케스병)
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MLD (Metachromatic leukodystrophy; 이염성 백질이영양증)
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LCHAD 결핍증
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Leigh disease (라이병)
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LHON (Leber's hereditary optic neuropathy)
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Lesch-Nyhan syndrome (레시-니한 증후군)
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