Genetic heterogeneity, see AGS2 (610181), AGS3 (610329), and AGS4 (610333)
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DISO:OMIM |
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Mature adipocytes surrounded by edematous interstitial component
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DISO:OMIM |
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Fibrofatty replacement of right ventricular myocardium
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DISO:OMIM |
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Calcinosis of the renal parenchyma
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DISO:OMIM |
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Staring episodes during seizures
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DISO:OMIM |
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ATRIAL FIBRILLATION, FAMILIAL, 5
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DISO:OMIM |
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Atrial Fibrillation, Familial, 5
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DISO:MSH |
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HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7
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DISO:OMIM |
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Thoracic aorta calcification
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DISO:OMIM |
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Thoracic aorta calcification
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DISO:HPO |
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Sense of initiative &or involvement
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DISO:LNC |
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Clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis
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DISO:OMIM |
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Hepatomegaly (harderoporphyria)
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DISO:OMIM |
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