PedAM
Pediatric Disease Annotations & Medicines
| Disease | leukodystrophy |
| 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- 23039964 | These include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, cardiomyopathy, myopathy, liver disease, leigh syndrome, leber hereditary optic neuropathy, and some forms of parkinson’s disease [49-51]. |
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