|OBO ID: DOID:0080563|
|Term Name:||congenital disorder of glycosylation Ik||Search Ontology:|
|Definition:||A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. (2)|
|Ontology:||Human Disease (DOID:0080563)|
|is a type of:||
OTHER congenital disorder of glycosylation Ik PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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