|OBO ID: DOID:0080556|
|Term Name:||congenital disorder of glycosylation Id||Search Ontology:|
|Definition:||A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. https://www.ncbi.nlm.nih.gov/pubmed/28108845|
|Ontology:||Human Disease (DOID:0080556)|
|is a type of:||
OTHER congenital disorder of glycosylation Id PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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