SGPL1 and microcephaly: Some of the aforementioned mutations in the gene coding for SPL, which are responsible for PAI and SRNS, also account for neurological impairments in their carriers, such as sensorineural deafness, ataxia, muscular hypotonia and severe brain malformation (microcephaly, cerebellar hypoplasia) [24,25,26], what corroborates the crucial role of SPL in early stages of neurodevelopment.