SLC39A8 and Cerebellar atrophy: This variant had a CADD score19 of 34.00, predicting deleterious effect, and mutations in SLC39A8 are also known to cause a severe congenital disorder of glycosylation, characterized by delayed psychomotor development apparent from infancy, hypotonia, short stature, seizures, visual impairment, and cerebellar atrophy.