PedAM
Pediatric Disease Annotations & Medicines
| Disease | nephrocalcinosis |
| Phenotype | C0086543|cataracts |
| Sentences | 1 |
| PubMedID- 25595726 | Whole exome sequencing was used to investigate the genetic cause of mitochondrial disease in two siblings with a syndrome of congenital lamellar cataracts associated with nephrocalcinosis, medullary cysts and 3-methylglutaconic aciduria. |
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