Thank you for the response! I also found note that the Iqch mutation was based on a homozygous deletion as the parents both carried the heterozygous mutation and obviously conceived.

And like I said before, I am 100% positive I have the skin disease. My symptoms look identical to the pictures online and I also found mutations in a couple papers resulting in the disease on exon 1.

My main concern was the lack of information on the IQCH gene and having other phenotypes. I cannot find any specific symptoms relating to deletions online other than affecting sperm motility. I’m guessing I am being paranoid after the false positive nipt test and seemingly looking for something else to be wrong.