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(HPO:0000635) | Blue irides | 25 / 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:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0002789) | Tachypnea | 48 / 7739 | ||||
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(HPO:0003355) | Aminoaciduria | 65 / 7739 | ||||
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(HPO:0003612) | Positive ferric chloride test | 2 / 7739 | ||||
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(HPO:0011364) | White hair | 4 / 7739 | ||||
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(OMIM) | Hyperpnea | 1 / 7739 | ||||
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(OMIM) | Alpha hydroxybutyric aciduria | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |