Term Name:	congenital disorder of glycosylation Ii
Synonyms:	congenital disorder of glycosylation 1i
Definition:	A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.
Ontology:	Human Disease [DOID:0080561]   ( DOID:0080561 )