Catalog

Component of conserved oligomeric Golgi complex 4 deficiency

No MMS code

Link to WHO Definition

Component of conserved oligomeric Golgi complex 4 deficiency – http://id.who.int/icd/entity/2078860328

Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome characterised clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.