PedAM
Pediatric Disease Annotations & Medicines
| Disease | encephalopathy |
| Phenotype | C0029124|optic atrophy |
| Sentences | 2 |
| PubMedID- 22046392 | The clinical phenotype of complex i deficiency is varied and includes severe neonatal lactic acidosis, leigh disease, cardiomyopathy-encephalopathy, hepatopathy-tubulopathy, leukodystrophy with macrocephaly optic atrophy, cerebellar ataxia, retinitis pigmentosa and growth retardation [10]. |
| PubMedID- 26000322 | Taken together, our findings identified echs1 mutations as a cause of a new clinical entity characterized by an early onset, very severe (leigh-like) mitochondrial encephalopathy with deafness, epilepsy, optic atrophy, and cardiomyopathy. |
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