Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
congenital disorder of glycosylation 1i [EXACT] |
Parent Relationships |