I'm a 20 month old baby boy who has a heterozygous mutation of unknown clinical significance in RNAseh2A. We did exome sequencing and it did not reveal anything further. I have bilateral hearing loss, visual processing delay, global developmental delay and so far non verbal. I'm not able to sit unassisted but I'm getting there. Generally, I'm in good health and am a happy little cookie with no calcifications.
I'm involved in Dr. Vanderver's research study.