You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Congenital pontocerebellar hypoplasia type 1, look for clinical trials, and connect with others living with it — all in one place.
Open the full Congenital pontocerebellar hypoplasia type 1 hub →Congenital pontocerebellar hypoplasia type 1 is a rare condition. Also known as Norman disease, PCH1. Tomeko brings together the specialists, research, clinical trials, treatments and community for Congenital pontocerebellar hypoplasia type 1 so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:2254 · OMIM 607596, 614678, 616081 · ICD-10 Q04.3 · GARD 0010704
Start by learning the basics from an authoritative source, find a specialist or center that sees Congenital pontocerebellar hypoplasia type 1, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Congenital pontocerebellar hypoplasia type 1, filtered to your area.
Tomeko shows live, recruiting studies for Congenital pontocerebellar hypoplasia type 1 from ClinicalTrials.gov on the hub.