Primary care
Recommendation 1
Early intervention for mental and developmental concerns
15q13.3 microdeletion syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Random or autosomal dominant disorder caused by deletion of at least 7 genes on long arm of chromosome 15 causing mental and physical development deficits
Common symptoms
Mental development deficits (mild to moderate intellectual disabilitieslearning delaysor normal intelligenceautism spectrum disordersand mental illness such as schizophrenia or bipolar disorder) and physical development deficits (Epilepsy and variousnon-consistent dysmorphic physical features)
When to suspect
Recommendation 1
Genetic testing (FISH), multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridization (aCGH).
How to test
Recommendation 1
Genetic testing (FISH), multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridization (aCGH).
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Epilepsy is treated with anti-seizure medication (ASM).
Further support
Recommendation 1
No specific physician specializes in this condition but NORD recommends doctors who specialize in epilepsy. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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