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Mowat-Wilson syndrome due to monosomy 2q22

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

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Mowat-Wilson syndrome due to monosomy 2q22, look for clinical trials, and connect with others living with it — all in one place.

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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

Common questions

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.

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