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MED23 is a gene that plays a role in brain development.Mutations in MED23 cause difficulty swallowing, screaming spells,reflux, and gastrointestinal problems in infants. Children with MED23gene mutations have profound learning and developmental delaysimpairing muscle control, mobility, communication, and speech. MED23 gene mutations donot cause changes in growth or physical appearance. MED23 is inheritedin an autosomal recessive fashion.
Source: GARD Last updated on 05-01-20
Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science. 2011 Aug 26;333(6046):1161-3. You may need to register to view the article, but registration is free.
Last updated on 04-27-20
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