Version: 8.0.0
Date: Tue Jan 28 2025
congenital disorder of glycosylation Ii
DOID:0080561
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital disorder of glycosylation Ii

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.
Synonyms
  • congenital disorder of glycosylation 1i
Cross References
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