PedAM
Pediatric Disease Annotations & Medicines
| Disease | encephalopathy |
| Phenotype | C0221355|macrocephaly |
| 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- 23762547 | Presentation of canavan disease includes progressive epileptic encephalopathy with developmental delay, macrocephaly, leukodystrophy, and optic atrophy [18, 19]. |
Page: 1