congenital disorder of glycosylation Ii

Term ID

DOID:0080561

Synonyms

congenital disorder of glycosylation 1i

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

References

GARD:9836
OMIM:607906
ORDO:79326

Ontology

Human Disease ( DOID:0080561 )

Relationships

is a type of: autosomal recessive disease congenital disorder of glycosylation type I

autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations