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(HPO:0000158) | Macroglossia | 119 / 7739 | ||||
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(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002355) | Difficulty walking | 61 / 7739 | ||||
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(HPO:0002751) | Kyphoscoliosis | 131 / 7739 | ||||
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(HPO:0010808) | Protruding tongue | 28 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |