|OBO ID: DOID:0080557|
|Term Name:||congenital disorder of glycosylation Ie||Search Ontology:|
|Definition:||A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/23856421|
|Ontology:||Human Disease (DOID:0080557)|
|is a type of:||
OTHER congenital disorder of glycosylation Ie PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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