Rare Mutation- CLCN6 - Other people impacted by this?
My son was recently diagnosed with a rare gene mutation- CLCN6, and I am looking to see if there are other people with this condition.
The genetic counselor explained that it has only recently been discovered and that the only literature available is 3-4 children who presented with more severe symptoms than my son. This makes it difficult to provide insight on to how this may progress or what other impact it may have. She told us that it is regressive in nature so it is possible he could start losing motor skills, impact his breathing, feeding and other functions controlled by the central nervous system.