MRT5 is a neurodevelopmental disorder encompassing, in addition to delayed speech and psychomotor development, a number of dysmorphic features such as microcephaly, long and narrow face, bushy eyebrows with synophrys, hypotelorism, large nose with long columella, short philtrum, and full upper lip. Many affected individuals have short stature, and some have later onset of muscular hypertonia and spasticity.
Diagnosis is made upon observing the aforementioned symptoms. Some patients can benefit from specific programs aimed at people with developmental disabilities to help them learn basic life skills.