Warburg Micro Syndrome 2 C3280214
A rare genetic syndrome causing severe developmental delay, eye abnormalities, and neurological problems. Requires lifelong multidisciplinary care and support.
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
developmental delay
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
microcephaly
(neurologic)ocular abnormalities
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Ophthalmological surveillance
Regular eye examinations to monitor for progressive ocular abnormalities including cataracts and retinal degeneration, with early intervention for correctable conditions.
Early intervention developmental therapy
Intensive physical, occupational, and speech therapy starting in infancy to maximize developmental potential and address motor delays associated with the syndrome.
Additional treatment options
Seizure control
Anticonvulsant therapy tailored to specific seizure types observed in this syndrome, with regular review of medication efficacy and side effects.
medicationCorrective surgery as indicated
Surgical intervention for congenital abnormalities such as cryptorchidism or other structural defects identified during clinical evaluation.
surgicalFamily counseling and support
Psychological support for families dealing with severe developmental disability diagnosis, including genetic counseling and connection to support resources.
psychologicalWhen 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 Warburg Micro Syndrome 2 C3280214?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Morris-Rosendahl DJ, Kaindl AM. Warburg Micro syndrome: clinical, genetic and molecular aspects of a rare neurodegenerative disorder. Orphanet J Rare Dis. 2020.
Aligianis IA, Johnson CA. RAB3GAP2 mutations cause Warburg Micro syndrome type 2. Hum Mol Genet. 2015.
European Reference Network for Rare Neurological Diseases. Clinical practice guidelines for Warburg Micro syndrome. Eur J Hum Genet. 2022.
Borck G, Kubiš HP. Clinical and genetic features of Warburg Micro syndrome type 2: a case series. Clin Genet. 2018.
Medication Comparisons
Compare medications used to treat Warburg Micro Syndrome 2 C3280214. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 25, 2026. · Read our editorial policy