Disease | leukodystrophy |
Phenotype | C0029124|optic atrophy |
Sentences | 1 |
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]. |
Page: 1