PedAM
Pediatric Disease Annotations & Medicines
| Disease | proteinuria |
| Phenotype | C0029089|ophthalmoplegia |
| 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. |
Page: 1