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PedAM

Pediatric Disease Annotations & Medicines




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].

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