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PedAM

Pediatric Disease Annotations & Medicines




Disease intellectual disability
Phenotype C0029124|optic atrophy
Sentences 2
PubMedID- 26539208 A novel mutation of afg3l2 might cause dominant optic atrophy in patients with mild intellectual disability.
PubMedID- 24462372 These findings indicate that nr2f1 plays an important role in the neurodevelopment of the visual system and that its disruption can lead to optic atrophy with intellectual disability.

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