In this nice Video about Syngap I can see similarities in our child also with Syngap. Please share this Video so the knowledge about Syngap can improve and more people can get the help/diagnosis they need.
Here you can find information about the SYNGAP Syndrome and what we experience about it. (Mutation: c.490C> T;p.Arg164*heterozygot) In the SYNGAP1 gen (de novo) – de novo means a new unknown Mutation. In the whole world, it exists more peoples with Mutation the SYNGAP1 gene. (Look the links at the bottom)
We have a son that has a Mutation in the SYNGAP1 gene.… Read more “What is SYNGAP?”
Here you can find information about how the mutation (c.5922G> T; p.Gln1974His hemizygotes) work on the MED12 gen and experiences we have. Less than five people in the world have this mutation. Besides, those documented people who had this from before also had a mutation in the OGT gene. Those had some problems (OGT and MED12).… Read more “What is MED12?”