Characteristics of those affected can include Global Developmental, Motor, Intellectual & Speech Delays, Microcephaly, Seizures, Hypotonia, Drooling, Autism, Short Stature, Vision, Dental & Bone Issues and more.
This diagnosis may apply to thousands worldwide & pave the way for the development of effective treatments.
Big thanks to the researchers, clinicians & geneticists mentioned in this article
for this long-awaited revelation!
If you recently received this diagnosis for your child or loved one, feel free to join this Facebook
group to connect with other RNU4-2 families.
Promoting more research, building a community, and spreading awareness...
there's still lots to learn and the sky is the limit!
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