MED 23 gene defect

Overview

Not much information is available on this ultra-rare gene defect. The known incidence is limited to two separate families (one in US, the other in Algeria). 

Symptoms

  • intellectual delays
  • gastrointestinal complications 
  • difficulties in swallowing and eating 
  • mobility limitations 
  • sensory delays

 

Causes

MED 23 is most likely caused my a genetic mutation.