REGISTRY DATA
rettX in numbers
A transparent view of the European Rett syndrome registry — updated live from the rettX platform.
Live from the rettX registry · updated June 23, 2026 4:22 pm
Why we share these numbers
Transparency builds trust. Behind every number is a family who chose to share their story so researchers, clinicians, and decision-makers can better understand Rett syndrome across Europe. The figures shown are aggregate counts only — no individual data is ever exposed.
GEOGRAPHIC REACH
Patients by country
The registry now spans communities across Europe. Below is the current ranking of registered patients by country.
GENETIC PROFILE
Most frequent mutations
Rett syndrome is caused by mutations in the MECP2 gene. The registry tracks the specific variants present in our community, helping researchers prioritise studies on the most common mutations.
Reference transcript: NM_004992.4 (MECP2)
| Color | Mutation | Patients | Share |
|---|---|---|---|
c.502C>T p.(R168*) |
51 | 11.2% | |
c.473C>T p.(T158M) |
50 | 10.9% | |
c.880C>T p.(R294*) |
43 | 9.4% | |
c.763C>T p.(R255*) |
38 | 8.3% | |
c.916C>T p.(R306C) |
34 | 7.4% | |
c.808C>T p.(R270*) |
33 | 7.2% | |
c.397C>T p.(R133C) |
30 | 6.6% | |
| Other mutations | 178 | 38.9% |
Live from the rettX registry · updated June 23, 2026 4:22 pm
DEMOGRAPHICS
Age distribution
Rett syndrome affects people of all ages. Below is the current age profile of patients in the registry, grouped in 5-year bands.
Age distribution across 530 patients with age data
Live from the rettX registry · updated June 23, 2026 4:22 pm
Help these numbers grow
Every family who joins makes the European Rett syndrome registry stronger.