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PedAM

Pediatric Disease Annotations & Medicines




Disease cataract
Phenotype C0029124|optic atrophy
Sentences 2
PubMedID- 23401657 Opa3 mutations result in optic atrophy associated with cataract [15,16], while tmem126a mutations are responsible for an autosomal recessive form of optic atrophy [17,18].
PubMedID- 22392506 Heterozygous opa3 mutations were subsequently reported in two french families with a dominantly inherited form of optic atrophy associated with premature cataract formation (adoac) [20].

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