Pbrm1 Related Bafopathy Cn306939
A condition related to PBRM1 gene changes affecting cell function. May increase risk of certain cancers. Management involves monitoring and treating manifestations.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Renal anomalies
(renal)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.
Neurodevelopmental Surveillance
Regular assessment of cognitive development, motor skills, speech, and behavior by developmental pediatricians identifies areas requiring intervention and tracks progression of any neurodevelopmental features.
Neurodevelopmental and Behavioral Support
Comprehensive psychological services including neuropsychological testing, behavioral therapy, and educational support address learning differences, attention difficulties, and social-emotional needs.
Additional treatment options
Symptomatic Medication Management
Pharmacological treatment of associated symptoms such as attention deficits, anxiety, or sleep disturbances may be indicated based on neuropsychiatric evaluation findings.
medicationMotor Development Intervention
Physical therapy addresses hypotonia, motor coordination difficulties, and developmental motor delays commonly seen in BAFopathy-related conditions.
physical_therapySpecialized Surgical Interventions
Surgical procedures address structural abnormalities that may include cardiac defects, renal anomalies, or other organ system involvement associated with PBRM1-related conditions.
surgicalMedication Comparisons
Compare medications used to treat Pbrm1 Related Bafopathy Cn306939. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy