PedAM
Pediatric Disease Annotations & Medicines
| Disease | hematuria |
| Phenotype | C0005745|ptosis |
| Sentences | 1 |
| PubMedID- 21656172 | The first patient was a 9-year-old girl with a common 4.9-kb mtdna deletion, who presented with hematuria and proteinuria associated with ptosis and ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, and ragged red fibers on muscle biopsy. |
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