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?”