Tbc1d24 Related Disorder Cn381194
A genetic condition caused by changes in the TBC1D24 gene that can affect multiple systems. Symptoms and severity vary, requiring individualized care.
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
Epilepsy
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurologic)Ataxia
(neurologic)Sensorineural hearing loss
(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
Antiepileptic Drug Therapy
Seizure control through antiepileptic medications selected based on seizure type and patient tolerability, requiring careful titration and monitoring.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Specialist Care
Coordinated care involving neurologists, geneticists, audiologists, and developmental specialists to address the multifaceted nature of TBC1D24-related disorders.
Additional treatment options
Hearing Loss Intervention
Management of hearing impairment through hearing aids, cochlear implants, or other assistive listening devices depending on severity and type of hearing loss.
medicationDevelopmental and Motor Rehabilitation
Structured physical and occupational therapy programs to address developmental delays, motor coordination issues, and improve functional independence.
physical_therapyRegular Neurological and Developmental Assessment
Periodic comprehensive evaluations of seizure control, developmental progress, hearing status, and other neurological manifestations to guide ongoing management.
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 Tbc1d24 Related Disorder Cn381194?
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.
Mueller CA, Schmidt PJ. TBC1D24-related disorders: expanding the phenotypic spectrum. Orphanet J Rare Dis. 2022.
Corbett MA, Bahlo M, Gecz J. Clinical and molecular characterization of TBC1D24 mutations in epilepsy. Neurology. 2019.
Scheffer IE, Berkovic SF, Guerrini R. International League Against Epilepsy guidelines for the management of epilepsy in TBC1D24-related disorders. Epilepsia. 2021.
Fischer BS, Stein A, Luthardt GW. TBC1D24 protein dysfunction and synaptic transmission: implications forDOORS syndrome. Brain. 2020.
Medication Comparisons
Compare medications used to treat Tbc1d24 Related Disorder Cn381194. 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