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(HPO:0000110) | Renal dysplasia | 44 / 7739 | ||||
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(HPO:0000202) | Oral cleft | 120 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000337) | Broad forehead | 116 / 7739 | ||||
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(HPO:0000444) | Convex nasal ridge | 87 / 7739 | ||||
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(HPO:0000567) | Chorioretinal coloboma | 26 / 7739 | ||||
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(HPO:0000611) | Choroid coloboma | 12 / 7739 | ||||
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(HPO:0000958) | Dry skin | 152 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001363) | Craniosynostosis | 132 / 7739 | ||||
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(HPO:0009816) | Lower limb undergrowth | 6 / 7739 | ||||
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(HPO:0009821) | Forearm undergrowth | 8 / 7739 | ||||
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(OMIM) | Slightly shortened forearms and legs | 1 / 7739 | ||||
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(OMIM) | Bat ears | 1 / 7739 | ||||
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(OMIM) | Flattened occiput | 3 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |