Primary care
Recommendation 1
ASM, therapy, and sometimes surgical interventions can be used for long term management
19p13.12 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
A 19p13.12 microdeletion is a very rare genetic condition, in which there is a tiny piece from the region known as p13.12, on chromosome 19.
Common symptoms
Physical structure abnormalities (Anteverted naresArrhythmiaAtrial septal defectBrachycephalyBroad foreheadClinodactyly of the 5th finger)speech development delayand seizures
When to suspect
Recommendation 1
Microarray comparative genomic hybridisation (array CGH) and FISH used for diagnosis
How to test
Recommendation 1
Microarray comparative genomic hybridisation (array CGH) and FISH used for diagnosis
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
ASM are used to treat seizures
Further support
Recommendation 1
No specific physicians specialize in 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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