OBO ID: DOID:0080563 |
Term Name: | congenital disorder of glycosylation Ik | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0080563 ) |
OTHER congenital disorder of glycosylation Ik PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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