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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0000544) | External ophthalmoplegia | 40 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0003473) | Fatigable weakness | 39 / 7739 | ||||
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
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(HPO:0007970) | Congenital ptosis | 7 / 7739 |