You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome hub →Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome is a rare condition. Also known as Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene. Tomeko brings together the specialists, research, clinical trials, treatments and community for Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:508498 · OMIM 615583 · ICD-10 Q87.8 · GARD 0017948
Start by learning the basics from an authoritative source, find a specialist or center that sees Intellectual disability-cardiac anomalies-short stature-joint laxity 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 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome, filtered to your area.
Tomeko shows live, recruiting studies for Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome from ClinicalTrials.gov on the hub.