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(HPO:0000407) | Sensorineural hearing impairment | 19409522 | IBIS | 524 / 7739 | ||
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(HPO:0000518) | Cataract | 19409522 | IBIS | 454 / 7739 | ||
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(HPO:0001263) | Global developmental delay | 19409522 | IBIS | 853 / 7739 | ||
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(HPO:0003198) | Myopathy | 19409522 | IBIS | 151 / 7739 | ||
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(HPO:0008972) | Decreased activity of mitochondrial respiratory chain | 19409522 | IBIS | 34 / 7739 | ||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |