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|
(HPO:0000508) | Ptosis | rare [HPO:skoehler] | 459 / 7739 | |||
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(HPO:0000964) | Eczema | rare [HPO:skoehler] | 81 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0001644) | Dilated cardiomyopathy | 141 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | rare [HPO:skoehler] | 467 / 7739 | |||
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(HPO:0002650) | Scoliosis | rare [HPO:skoehler] | 705 / 7739 | |||
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(HPO:0002716) | Lymphadenopathy | rare [HPO:skoehler] | 129 / 7739 | |||
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(HPO:0002719) | Recurrent infections | rare [HPO:skoehler] | 107 / 7739 | |||
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(HPO:0002721) | Immunodeficiency | rare [HPO:skoehler] | 97 / 7739 | |||
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(HPO:0002910) | Elevated hepatic transaminases | rare [HPO:skoehler] | 158 / 7739 | |||
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|
(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0003326) | Myalgia | 143 / 7739 | ||||
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 |