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Phelan-McDermid syndrome due to SHANK3 mutation

Just diagnosed with Phelan-McDermid syndrome due to SHANK3 mutation?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Phelan-McDermid syndrome due to SHANK3 mutation, look for clinical trials, and connect with others living with it — all in one place.

Open the full Phelan-McDermid syndrome due to SHANK3 mutation hub →

Overview

Phelan-McDermid syndrome due to SHANK3 mutation is a rare condition. Tomeko brings together the specialists, research, clinical trials, treatments and community for Phelan-McDermid syndrome due to SHANK3 mutation so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:662172 · OMIM 606232 · ICD-10 Q93.5 · GARD 0027169

Find care for Phelan-McDermid syndrome due to SHANK3 mutation

Authoritative references for Phelan-McDermid syndrome due to SHANK3 mutation

Common questions

I was just diagnosed with Phelan-McDermid syndrome due to SHANK3 mutation — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees Phelan-McDermid syndrome due to SHANK3 mutation, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for Phelan-McDermid syndrome due to SHANK3 mutation?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Phelan-McDermid syndrome due to SHANK3 mutation, filtered to your area.

Are there clinical trials for Phelan-McDermid syndrome due to SHANK3 mutation?

Tomeko shows live, recruiting studies for Phelan-McDermid syndrome due to SHANK3 mutation from ClinicalTrials.gov on the hub.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com