ADAT3

The protein functions as the regulatory subunit of a tRNA-specific adenosine deaminase complex that modifies tRNA anticodons to enable flexible genetic code reading and is required for proper neuronal migration during brain development. Mutations cause autosomal recessive neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, often presenting with intellectual disability and strabismus. The gene shows moderate tolerance to loss-of-function variants (LOEUF 1.459), consistent with recessive inheritance where heterozygous carriers are typically unaffected.