Just diagnosed with Phelan-McDermid syndrome due to 22q13.3 deletion?
You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Phelan-McDermid syndrome due to 22q13.3 deletion, look for clinical trials, and connect with others living with it — all in one place.
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Phelan-McDermid syndrome due to 22q13.3 deletion is a rare condition. Also known as 22q13.3 deletion, Chromosome 22q13.3 deletion syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for Phelan-McDermid syndrome due to 22q13.3 deletion so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:662169 · OMIM 606232 · ICD-10 Q93.5 · GARD 0027168
Find care for Phelan-McDermid syndrome due to 22q13.3 deletion
Authoritative references for Phelan-McDermid syndrome due to 22q13.3 deletion
Research & market landscape for Phelan-McDermid syndrome due to 22q13.3 deletion
Following Phelan-McDermid syndrome due to 22q13.3 deletion for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Phelan-McDermid syndrome due to 22q13.3 deletion — the real-world landscape behind the condition, in one place.
- Latest Phelan-McDermid syndrome due to 22q13.3 deletion research on PubMed ↗
- Recruiting Phelan-McDermid syndrome due to 22q13.3 deletion trials on ClinicalTrials.gov ↗
- Explore the Phelan-McDermid syndrome due to 22q13.3 deletion research & specialist footprint on Tomeko
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Common questions
What is Phelan-McDermid syndrome due to 22q13.3 deletion?
Phelan-McDermid syndrome due to 22q13.3 deletion is a rare condition. Also known as 22q13.3 deletion, Chromosome 22q13.3 deletion syndrome. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Phelan-McDermid syndrome due to 22q13.3 deletion together in one place.
What are the symptoms of Phelan-McDermid syndrome due to 22q13.3 deletion?
Symptoms of Phelan-McDermid syndrome due to 22q13.3 deletion vary from person to person. For a reviewed, plain-language overview see the authoritative references below (NIH GARD, Orphanet), and discuss your own symptoms with a clinician who treats Phelan-McDermid syndrome due to 22q13.3 deletion.
How is Phelan-McDermid syndrome due to 22q13.3 deletion treated?
Treatment for Phelan-McDermid syndrome due to 22q13.3 deletion depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Phelan-McDermid syndrome due to 22q13.3 deletion, and review current options with them.
What causes Phelan-McDermid syndrome due to 22q13.3 deletion — is it genetic?
The cause and inheritance of Phelan-McDermid syndrome due to 22q13.3 deletion are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Phelan-McDermid syndrome due to 22q13.3 deletion can explain what it means for you and your family.
I was just diagnosed with Phelan-McDermid syndrome due to 22q13.3 deletion — 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 22q13.3 deletion, 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 22q13.3 deletion?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Phelan-McDermid syndrome due to 22q13.3 deletion, filtered to your area.
Are there clinical trials for Phelan-McDermid syndrome due to 22q13.3 deletion?
Tomeko shows live, recruiting studies for Phelan-McDermid syndrome due to 22q13.3 deletion from ClinicalTrials.gov on the hub.
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