It sounds like you are very close to a diagnosis with all your positive results. At least you know that there is a reason, or reasons for your situation. It just hasn’t all been pulled together into a single diagnosis. With all of your test results, you could get a referral to the best teaching facility where all it takes is one good doctor who has seen this exact presentation and knows what it is. (I’m close to UAB, so go there). I don’t have that diagnosis, and I’m starting to accept what I’ve been told by several of my medical team group - at this point, knowing exactly what it is won’t change the treatment. I don’t like that statement, but might have to accept it. You have a recessive gene identified. That’s huge. Research more about that, and see if a group somewhere is doing more research on that. My genetic testing was normal, except for one small blip that was deemed insignificant. But the lab that did it told me to check back every few years, as new genomes are always being identified. That’s important, because my sister has the same symptoms as me.
My symptoms started 9 years ago. Get ready for a slow as molasses journey into finding your diagnosis!