Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.
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Neu-Laxova syndrome
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inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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syndromic intellectual disability
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abdominal obesity-metabolic syndrome
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fibrogenesis imperfecta ossium
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Fanconi renotubular syndrome
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