You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Multiple congenital anomalies-hypotonia-seizures syndrome 1, look for clinical trials, and connect with others living with it — all in one place.
Open the full Multiple congenital anomalies-hypotonia-seizures syndrome 1 hub →Multiple congenital anomalies-hypotonia-seizures syndrome 1 is a rare condition. Also known as Congenital disorder of glycosylation due to PIGN deficiency, PIGN-CDG. Tomeko brings together the specialists, research, clinical trials, treatments and community for Multiple congenital anomalies-hypotonia-seizures syndrome 1 so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:280633 · OMIM 614080 · ICD-10 Q87.8 · GARD 0012781
Start by learning the basics from an authoritative source, find a specialist or center that sees Multiple congenital anomalies-hypotonia-seizures syndrome 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 Multiple congenital anomalies-hypotonia-seizures syndrome 1, filtered to your area.
Tomeko shows live, recruiting studies for Multiple congenital anomalies-hypotonia-seizures syndrome 1 from ClinicalTrials.gov on the hub.