When considering the present case, it is important to note that the identification of a likely causative, pathogenic NEDD4L variant explained just a part of our patient's phenotype, specifically those overlapping with PVNH7, such as delayed psychomotor and mental development, seizures with eyelid myoclonia and infantile spasms, periventricular nodular heterotopia, polymicrogyria, cleft palate, 2 to 3 toe syndactyly, hypotonia and hypotonic quadriparesis, microretrognathia, strabismus, and absent speech and walking. Here, NEDD4L is linked to infantile spasms.