Developmental and epileptic encephalopathy 95 (DEE95) is a type of inherited glycosylphosphatidylinositol deficiency disorders (IGDs), a subgroup of congenital disorders of glycosylation. Only few cases have been reported and were characterized by seizures, dysmorphic features, multiple congenital malformations, severe intellectual disability, severe global developmental delay, hypotonia, weakness, ataxia, and dysmorphic facial features. It is transmitted in an autosomal recessive manner.
PIGS