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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001595) | Abnormality of the hair | 89 / 7739 | ||||
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(HPO:0003355) | Aminoaciduria | 65 / 7739 | ||||
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(HPO:0007431) | Congenital ichthyosiform erythroderma | 17 / 7739 | ||||
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(OMIM) | Split hair | 1 / 7739 | ||||
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(OMIM) | Excess urinary arginine, serine, lysine and alanine | 1 / 7739 | ||||
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(OMIM) | Absent urinary proline and hydroxyproline | 1 / 7739 | ||||
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(HPO:0008064) | Ichthyosis | 108 / 7739 | ||||
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(OMIM) | Collodion skin | 2 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |