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corpus callosum, agenesis of MONDO:0009022 #8217

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galyea123 opened this issue Sep 30, 2024 · 0 comments
Open

corpus callosum, agenesis of MONDO:0009022 #8217

galyea123 opened this issue Sep 30, 2024 · 0 comments
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user request A request from an external user

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@galyea123
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Hi! Agenesis of corpus callosum (MONDO:0009022) is considered a rare disease by Orphanet (isolated corpus callosum agenesis) and also is still considered rare in USA with a reported prevalence of about 1 in 4,000 to 5,000 live births or an incidence of 0.5 to 70 in 10000, and its prevalence in children with developmental disabilities is about 230 in 10000 (2.3%). It presents in 1 in 19000 autopsies. https://www.ncbi.nlm.nih.gov/books/NBK540986/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565833/
I suggest to link it to Orphanet.
NORD has a report about it that we need to update.
Thank you! Gioconda Alyea

@sagehrke sagehrke added the user request A request from an external user label Sep 30, 2024
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