You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Hyperphenylalaninemia due to DNAJC12 deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full Hyperphenylalaninemia due to DNAJC12 deficiency hub →Hyperphenylalaninemia due to DNAJC12 deficiency is a rare condition. Also known as Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia. Tomeko brings together the specialists, research, clinical trials, treatments and community for Hyperphenylalaninemia due to DNAJC12 deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:508523 · OMIM 617384 · ICD-10 E70.1 · GARD 0017950
Start by learning the basics from an authoritative source, find a specialist or center that sees Hyperphenylalaninemia due to DNAJC12 deficiency, 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 Hyperphenylalaninemia due to DNAJC12 deficiency, filtered to your area.
Tomeko shows live, recruiting studies for Hyperphenylalaninemia due to DNAJC12 deficiency from ClinicalTrials.gov on the hub.