Primary care
Recommendation 1
Specialist referrals and therapy
5q14.3 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
The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5
Common symptoms
Autistic behaviorbroad foreheaddelayed speech and language developmenthypotoniahigh foreheadseizurehypoplasia of the corpus callosummotor stereotypy
When to suspect
Recommendation 1
Array CGH has been widely used as a promising diagnostic method
How to test
Recommendation 1
Array CGH has been widely used as a promising diagnostic method
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
Supportive Treatment Only
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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