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Metadata
ID DOID:0080561
Name 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.
https://www.ncbi.nlm.nih.gov/pubmed/12684507
Xrefs

GARD:9836

OMIM:607906

ORDO:79326

Synonyms

congenital disorder of glycosylation 1i [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type I

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