Families

RARS2aids in the production of key mitochondrial proteins, and biallelic variants that impair this function cause a spectrum of autosomal recessive mitochondrial disorders. The most severe phenotype is pontocerebellar hypoplasia 6 (PCH6), characterized by neonatal epilepsy, global developmental delay/intellectual disability, structural brain abnormalities, microcephaly, hypotonia, movement disorders, and poor feeding. Some patients, however, may have milder complications.