Notably, Oliveira et al.’s (6) work further corroborates genotype–phenotype associations in LAMA2-related disorders: stop-gain (PTC) variants are strongly associated with the MDC1A phenotype and complete merosin deficiency, whereas missense variants typically lead to partial merosin defects and milder disease manifestations. This evidence concerns the gene LAMA2 and hyperinsulinemic hypoglycemia, familial, 4.