UPF3B-related disorder
One gene. Five generations.
Eighty years without an answer.
A family-founded initiative connecting patients, clinicians, and researchers to shorten the wait for a diagnosis and build the community this condition does not yet have.
Read the gene guide →Start here
Which of these is you?
♥I'm a family or carerPlain-language guides, what to expect after a diagnosis, and how to reach other families.Explore family resources ›⚖I'm a clinicianWhen to suspect it, which test finds it, and how to refer in San Antonio.View clinician resources ›★I'm a researcherOur pedigree series, open questions, and how to collaborate.See our research ›
The basics
Six things worth knowing.
It is on the X chromosomeWhich is why it is seen more often, and usually more severely, in boys. Carriers may have mild signs or none at all.
It often affects speech firstDelayed or unclear speech is one of the most commonly reported early signs, alongside slower overall development.
No two people matchThe same variant can look very different in two relatives. A single case report rarely predicts any one child's course.
A panel test can miss itExome or genome sequencing is what usually finds UPF3B. Ask specifically whether it was covered.
Care is a team, not a cureSpeech, occupational, and behavioural therapy carry most of the day-to-day gains available today.
Insurance often covers testingTexas Medicaid and most private plans cover exome sequencing for unexplained developmental delay. Ask before ruling it out.
What we know so far.
~43
people described in published medical literature worldwide
13
affected males identified in our own case series
5
family pedigrees documented, plus multiple carrier females
1st
dedicated patient advocacy effort for UPF3B anywhere
Common questions
The questions families ask first.
Is this the same as autism?
Not exactly. Some children with UPF3B-related disorder also have autism, but the underlying cause is a specific genetic change rather than autism itself. Knowing the specific cause can open up different care options.
Will insurance cover genetic testing?
In many cases, yes. Texas Medicaid and most private insurance plans cover comprehensive genetic testing, such as exome sequencing, when a child has unexplained developmental delay or intellectual disability. Ask your child's doctor or genetics clinic to check your specific coverage.
We do not have a diagnosis yet. Can we still connect?
Yes. Families who suspect a genetic cause but do not yet have a confirmed diagnosis are welcome to reach out. We can help point you toward genetics resources near you.
Our story so far
June 2025After years without answers, the first member of our extended family received a confirmed UPF3B diagnosis.
2025 to 2026Documented 13 affected males and multiple carrier females across 5 pedigrees.
2025 to 2026Secured a 70 percent discount on genetic testing through a laboratory collaboration, saving families roughly INR 100,000.
Oct 2026Our case series will be presented as a poster at ASHG 2026.
In progressManuscript in preparation, and building a formal partnership with Simons Searchlight.
Stay in the loop. Occasional updates on research, events, and new resources.