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(HPO:0000365) | Hearing impairment | rare [HPO:skoehler] | 539 / 7739 | |||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | rare [HPO:skoehler] | 316 / 7739 | |||
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(HPO:0002104) | Apnea | 106 / 7739 | ||||
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(HPO:0002151) | Increased serum lactate | 92 / 7739 | ||||
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(HPO:0002490) | Increased CSF lactate | 28 / 7739 |