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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease intellectual disability
Comorbidity C0029124|optic atrophy
Sentences 2
PubMedID- 24462372 Nr2f1 mutations cause optic atrophy with intellectual disability.
PubMedID- 26539208 A novel mutation of afg3l2 might cause dominant optic atrophy in patients with mild intellectual disability.

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