MRT36 is a disorder characterized by severe cognitive impairment and strabismus. Patients may also suffer from microcephaly, failure to thrive, short stature, hypotonia, and spasticity. Neurological features include epilepsy and mild brain abnormalities such as dilated ventricles, delayed myelination, arachnoid cysts, and white matter changes. Affected individuals may also present with dysmorphic facial features, including hypertelorism, epicanthus, telecanthus, a prominent or high forehead, up-slanted palpebral fissures, a depressed nasal bridge, and a short nose. In a few cases, behavioral issues such as aggressiveness and hyperactivity have also been noted.
MRT36 follows an autosomal recessive pattern of inheritance. The disease is caused by mutations in the ADAT3 gene. ADAT3 encodes an adenosine deaminase that is responsible for the conversion of adenosine to inosine at the wobble position of the t-RNA anticodon.