DISEASES

Disease-gene associations mined from literature

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,  DOID:0080561,  congenital disorder of glycosylation Iis,  congenital disorder of glycosylation 1i