Term Name:	congenital disorder of glycosylation type IIr
Synonyms:
Definition:	A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.
Ontology:	Human Disease [DOID:0051048]   ( DOID:0051048 )