Browsed by
Category: SYNGAP

What is SYNGAP?

What is SYNGAP?

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?”