Neurological
Mowat-Wilson Syndrome
Also known as MWS, ZEB2 haploinsufficiency, Hirschsprung disease with intellectual disability
Mowat-Wilson syndrome is caused by de novo loss-of-function mutations or deletions of ZEB2, encoding Zinc finger E-box binding homeobox 2, a transcriptional repressor critical for neural crest development. Clinical features include distinct
0
studies recruiting now
as of 7 Sept 2026
1
studies registered in total
as of 7 Sept 2026
0
countries with a recruiting site
as of 7 Sept 2026
None
recruiting study posted to date
among recruiting studies
Recruiting trials
No recruiting trial found right now.
1 study is registered for Mowat-Wilson Syndrome, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.
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Registry: Mowat-Wilson Syndrome International Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Mowat-Wilson Syndrome
Mowat-Wilson syndrome is caused by de novo loss-of-function mutations or deletions of ZEB2, encoding Zinc finger E-box binding homeobox 2, a transcriptional repressor critical for neural crest development. Clinical features include distinctive facial appearance (deeply set eyes, prominent columella), moderate-to-severe intellectual disability, absent or severely limited speech, Hirschsprung disease (in ~50%), epilepsy, and structural brain abnormalities including corpus callosum hypoplasia.
Common clinical features
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Mowat-Wilson Syndrome. Not eligibility rules; those are set by each study.
- ZEB2 pathogenic variant confirmed by sequence analysis and/or deletion/duplication testing is required for trial eligibility
- Hirschsprung disease history and surgical intervention status should be documented — GI complications may affect trial eligibility
- Seizure type and current antiseizure medication regimen must be stable for a defined period before enrollment
- Adaptive behavior and communication assessments are the primary outcome measures in behavioral and pharmacological trials
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).