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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0001319) | Neonatal hypotonia | 101 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | 191 / 7739 | ||||
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(HPO:0002028) | Chronic diarrhea | 51 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(OMIM) | Weak diaphragm | 1 / 7739 | ||||
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(OMIM) | Radiculoneuropathy | 1 / 7739 | ||||
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(OMIM) | Opisthotonic posturing | 4 / 7739 | ||||
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(HPO:0002270) | Abnormality of the autonomic nervous system | 22 / 7739 | ||||
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(HPO:0002271) | Autonomic dysregulation | 11 / 7739 | ||||
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(HPO:0002459) | Dysautonomia | 34 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003819) | Death in childhood | 42 / 7739 |