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Mowat-Wilson syndrome due to monosomy 2q22

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Just diagnosed with Mowat-Wilson syndrome due to monosomy 2q22?

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Overview

Mowat-Wilson syndrome due to monosomy 2q22 is a rare condition. Also known as Hirschsprung disease and intellectual disability due to 2q22 microdeletion, Hirschsprung disease and intellectual disability due to del(2)(q22), Hirschsprung disease and intellectual disability due to monosomy 2q22, Mowat-Wilson syndrome due to 2q22 microdeletion, Mowat-Wilson syndrome due to del(2)q(22). Tomeko brings together the specialists, research, clinical trials, treatments and community for Mowat-Wilson syndrome due to monosomy 2q22 so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:261537 · OMIM 235730 · ICD-10 Q43.1 · GARD 0017248

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Authoritative references for Mowat-Wilson syndrome due to monosomy 2q22

Research & market landscape for Mowat-Wilson syndrome due to monosomy 2q22

Following Mowat-Wilson syndrome due to monosomy 2q22 for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Mowat-Wilson syndrome due to monosomy 2q22 — the real-world landscape behind the condition, in one place.

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Common questions

What is Mowat-Wilson syndrome due to monosomy 2q22?

Mowat-Wilson syndrome due to monosomy 2q22 is a rare condition. Also known as Hirschsprung disease and intellectual disability due to 2q22 microdeletion, Hirschsprung disease and intellectual disability due to del(2)(q22), Hirschsprung disease and intellectual disability due to monosomy 2q22, Mowat-Wilson syndrome due to 2q22 microdeletion, Mowat-Wilson syndrome due to del(2)q(22). For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Mowat-Wilson syndrome due to monosomy 2q22 together in one place.

What are the symptoms of Mowat-Wilson syndrome due to monosomy 2q22?

Symptoms of Mowat-Wilson syndrome due to monosomy 2q22 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 Mowat-Wilson syndrome due to monosomy 2q22.

How is Mowat-Wilson syndrome due to monosomy 2q22 treated?

Treatment for Mowat-Wilson syndrome due to monosomy 2q22 depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Mowat-Wilson syndrome due to monosomy 2q22, and review current options with them.

What causes Mowat-Wilson syndrome due to monosomy 2q22 — is it genetic?

The cause and inheritance of Mowat-Wilson syndrome due to monosomy 2q22 are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Mowat-Wilson syndrome due to monosomy 2q22 can explain what it means for you and your family.

I was just diagnosed with Mowat-Wilson syndrome due to monosomy 2q22 — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees Mowat-Wilson syndrome due to monosomy 2q22, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for Mowat-Wilson syndrome due to monosomy 2q22?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Mowat-Wilson syndrome due to monosomy 2q22, filtered to your area.

Are there clinical trials for Mowat-Wilson syndrome due to monosomy 2q22?

Tomeko shows live, recruiting studies for Mowat-Wilson syndrome due to monosomy 2q22 from ClinicalTrials.gov on the hub.

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