Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

Through systematic evaluation of 290 individuals with ACTB or ACTG1 variants, we delineate eight non-muscle actinopathies with distinct clinical profiles. Clear genotype-phenotype correlations, characteristic facial gestalts, and organ involvement patterns support improved diagnostic classification, prognostication, and counseling, providing clinicians with a practical framework for managing these rare disorders.