Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) 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 neurodevelopmental disorder with hypotonia, cerebellar atrophy and epilepsy. It is transmitted in an autosomal recessive manner.
PIGK