PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0339527|leber congenital amaurosis |
| Sentences | 1 |
| PubMedID- 23244519 | Mutations in the nphp1 gene have been reported in senior-loken syndrome, which occurs with leber congenital amaurosis, in joubert syndrome, which may cause retinal dystrophy, and also in juvenile nephronophthisis in isolation. |
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