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(HPO:0000252) | Microcephaly | 9820300 | IBIS | 832 / 7739 | ||
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(HPO:0001252) | Muscular hypotonia | 9820300 | IBIS | 990 / 7739 | ||
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(HPO:0001263) | Global developmental delay | 9820300 | IBIS | 853 / 7739 | ||
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(HPO:0001531) | Failure to thrive in infancy | 9820300 | IBIS | 26 / 7739 | ||
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(OMIM) | Leukotriene C4 synthetase deficiency | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001522) | Death in infancy | 275 / 7739 |