This variant is inherited as an autosomal dominant trait, and its associated clinical characteristics include mental retardation, seizures, general growth stunt, spastic quadriplegia, gyral hypertrophy, cerebellar hypoplasia, agyria, pachygyria, brainstem dysplasia, brain white matter abnormality, acquired microcephaly, trunk muscle hypotonia, perivascular space, and subcortical zonal heterotopia.[5,10] Therefore, the harmfulness of PAFAH1B1 gene mutation, in this case, is related to the patient’s phenotype. Here, PAFAH1B1 is linked to Pachygyria.