PedAM
Pediatric Disease Annotations & Medicines
| Disease | cataract |
| Phenotype | C0026848|myopathy |
| Sentences | 1 |
| PubMedID- 22292055 | Recently, the first human disease due to alr r194h mutation has been identified as an autosomal-recessive infantile mitochondrial disorder presenting myopathy with cataract and combined respiratory-chain deficiency [13]. |
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