Takeaway
People with pathogenic variants of glutaminyl-tRNA synthetase (QARS) can have a broad range of phenotypes, and any child presenting with a core triad of microcephaly, intellectual disability (ID), and early-onset epilepsy should be tested for QARS variants.
Why this matters
QARS is essential for translation of messenger ribonucleic acid (mRNA) to proteins, and people with variations of this protein have severe epilepsy, severe ID, and progressive microcephaly.
Further understanding the genotype-phenotype interactions of this disease may improve clinical treatment and outcomes.