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Seeking others with Houge-Janssens Syndrome

Hello. My son received a diagnosis of Houge-Janssens Syndrome type 3. It is caused by a mutation in the gene designated PPP2CA. The 4 things that are most often seen are developmental delay, epilepsy, low muscle tone, and ASD, but other symptoms have been reported. I'm trying to slightly organize the families out there who have this diagnosis. There are at least 16 individuals who were talked about in a 2019 research, and I have yet to make contact with any of them. I say that in order to say that I know for a fact that there are others out there. If someone in your family has received a diagnosis of PPP2CA-related neurodevelopmental disorder or Houge-Janssens Syndrome type 3 (also sometimes called NEDLBA), please reach out by joining us on Facebook in the group Houge-Janssens / PPP2CA or by visiting our website at https://ppp2capathways.com/join-us

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