The only gene that was found mutated twice was FKRP with two different variants causing variable clinical manifestations: S3 harbored a novel stop-gain variant and had WWS with cerebellar microcysts and hydrocephalus, while S7 harbored a missense variant and presented with a phenotype overlapping MEB and merosin-deficient CMD characterized by white matter hyperintensities, cerebellar hypoplasia, and microcysts without hydrocephalus or cortical malformation. Here, FKRP is linked to muscle-eye-brain disease.