Primary care
Recommendation 1
Multidisciplinary management is needed including therapy and various specialties
16p11.2 deletion syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Inherited or random mutation disorder caused by missing information on a specific region of chromosome 16 designated as p11.2 causing mental and physical development deficits.
Common symptoms
Mental deficits (autistic behaviorbehavior abnormalitydelayed speechADHDintellectual disability) and physical deficits/manifestations (motor delayglobal developmental delaymacrocephalybrain imaging abnormalityepilepsyobesity)
When to suspect
Recommendation 1
Genetic testing using chromosomal microarray (CMA), exome/genome sequencing with copy number variant calling, or targeted deletion analysis
How to test
Recommendation 1
Genetic testing using chromosomal microarray (CMA), exome/genome sequencing with copy number variant calling, or targeted deletion analysis
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 physician specialist available for this condition but NORD recommends various rare disease clinics. 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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