You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Blepharophimosis - intellectual disability syndrome, SBBYS type, look for clinical trials, and connect with others living with it — all in one place.
Open the full Blepharophimosis - intellectual disability syndrome, SBBYS type hub →Blepharophimosis - intellectual disability syndrome, SBBYS type is a rare condition. Also known as Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, SBBYS variant of Ohdo syndrome, SBBYSS, Say-Barber-Biesecker-Young-Simpson syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for Blepharophimosis - intellectual disability syndrome, SBBYS type so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:3047 · OMIM 603736 · ICD-10 Q87.8 · GARD 0016618
Start by learning the basics from an authoritative source, find a specialist or center that sees Blepharophimosis - intellectual disability syndrome, SBBYS type, 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 Blepharophimosis - intellectual disability syndrome, SBBYS type, filtered to your area.
Tomeko shows live, recruiting studies for Blepharophimosis - intellectual disability syndrome, SBBYS type from ClinicalTrials.gov on the hub.