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(OMIM) | Elevated plasma lysosomal enzymes | 1 / 7739 | ||||
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(OMIM) | Normal urinary and CSF lysosoal enzymes | 1 / 7739 | ||||
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(OMIM) | Normal levels of acid phosphatase, alkaline phosphatase and beta-glucuronidase | 1 / 7739 | ||||
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(OMIM) | Mannose 6-phosphate receptor recognition defect | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0004356) | Abnormality of lysosomal metabolism | 6 / 7739 |