Mowat Wilson Syndrome Due To A Zeb2 Point Mutation C5679681
A genetic syndrome caused by changes in the ZEB2 gene affecting brain and facial development. Features include intellectual disability, distinctive facial features, and often absent corpus callosum. Care focuses on managing developmental and medical needs.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Microcephaly
(neurologic)Agenesis of the corpus callosum
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Anticonvulsant therapy
Seizure control through appropriate anticonvulsant medications tailored to seizure type. Regular monitoring of seizure frequency and medication levels is essential for optimal management.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Hirschsprung disease surgical correction
Surgical intervention to remove affected bowel segments in patients with Hirschsprung disease, which is commonly associated with Mowat-Wilson syndrome. Stoma creation may be required in severe cases.
Additional treatment options
Developmental physical therapy
Early intervention physical therapy program focusing on motor development, muscle tone normalization, and coordination exercises to support developmental milestones.
physical_therapyBehavioral and developmental support
Comprehensive psychological support including behavioral interventions, occupational therapy, and speech therapy to address intellectual disability and communication challenges.
psychologicalMultisystem monitoring program
Regular surveillance for associated anomalies including congenital heart defects, renal abnormalities, and genitourinary issues through scheduled imaging and laboratory assessments.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Mowat Wilson Syndrome Due To A Zeb2 Point Mutation C5679681?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy