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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001944) | Dehydration | 59 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0005974) | Episodic ketoacidosis | 4 / 7739 | ||||
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(OMIM) | Increased urinary 2-methyl-3-hydroxybutyric acid | 1 / 7739 | ||||
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(OMIM) | Increased urinary 2-methylacetoacetic acid | 1 / 7739 | ||||
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(OMIM) | Increased urinary tiglylglycine | 1 / 7739 | ||||
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(OMIM) | Increased urinary 2-butanone | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |