Human genes for congenital disorder of glycosylation Ii
Congenital disorder of glycosylation Ii [DOID:0080561]
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.
Synonyms: congenital disorder of glycosylation Ii, congenital disorder of glycosylation Iis, DOID:0080561, congenital disorder of glycosylation 1i