congenital disorder of glycosylation Ii (DOID:0080561)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1i
Alt IDs: OMIM:607906, ORDO:79326
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.