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(HPO:0000272) | Malar flattening | 3/3 [HPO:probinson] | 19110214 | IBIS | 277 / 7739 | |
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(HPO:0000303) | Mandibular prognathia | 3/3 [HPO:probinson] | 19110214 | IBIS | 179 / 7739 | |
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(HPO:0000358) | Posteriorly rotated ears | 3/3 [HPO:probinson] | 19110214 | IBIS | 163 / 7739 | |
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(HPO:0000369) | Low-set ears | 3/3 [HPO:probinson] | 19110214 | IBIS | 372 / 7739 | |
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(HPO:0000470) | Short neck | 3/3 [HPO:probinson] | 19110214 | IBIS | 345 / 7739 | |
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(HPO:0001388) | Joint laxity | 3/3 [HPO:probinson] | 19110214 | IBIS | 117 / 7739 | |
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(HPO:0001552) | Barrel-shaped chest | 3/3 [HPO:probinson] | 19110214 | IBIS | 31 / 7739 | |
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(HPO:0001609) | Hoarse voice | 2/3 [HPO:probinson] | 19110214 | IBIS | 34 / 7739 | |
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(HPO:0002938) | Lumbar hyperlordosis | 3/3 [HPO:probinson] | 19110214 | IBIS | 73 / 7739 | |
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(HPO:0003027) | Mesomelia | 3/3 [HPO:probinson] | 19110214 | IBIS | 58 / 7739 | |
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(HPO:0004482) | Relative macrocephaly | 3/3 [HPO:probinson] | 19110214 | IBIS | 44 / 7739 | |
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(HPO:0005285) | Absent nasal bridge | 3/3 [HPO:probinson] | 19110214 | IBIS | 2 / 7739 | |
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(HPO:0008905) | Rhizomelia | 3/3 [HPO:probinson] | 19110214 | IBIS | 85 / 7739 | |
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(HPO:0009381) | Short finger | 3/3 [HPO:probinson] | 19110214 | IBIS | 45 / 7739 | |
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(HPO:0011304) | Broad thumb | 3/3 [HPO:probinson] | 19110214 | IBIS | 39 / 7739 | |
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0002651) | Spondyloepimetaphyseal dysplasia | 19 / 7739 |