You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Birk-Barel syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full Birk-Barel syndrome hub →Birk-Barel syndrome is a rare condition. Also known as Birk-Barel Intellectual Disability-Dimorphism syndrome, Intellectual disability-hypotonia-facial dysmorphism syndrome, KCNK9 imprinting syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for Birk-Barel syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:166108 · OMIM 612292 · ICD-10 Q87.8 · GARD 0010358
Start by learning the basics from an authoritative source, find a specialist or center that sees Birk-Barel syndrome, 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 Birk-Barel syndrome, filtered to your area.
Tomeko shows live, recruiting studies for Birk-Barel syndrome from ClinicalTrials.gov on the hub.