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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000540) | Hypermetropia | 99 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 19409520 | IBIS | 1089 / 7739 | ||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0004322) | Short stature | 19409520 | IBIS | 1232 / 7739 | ||
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(HPO:0010997) | Chromosomal breakage induced by ionizing radiation | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |