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
Clinical Trial Eligibility Tips
What to know before applying to Mowat-Wilson Syndrome trials.
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
Patient Resources
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