|OBO ID: DOID:0080555|
|Term Name:||congenital disorder of glycosylation Ic||Search Ontology:|
|Definition:||A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. (2)|
|Ontology:||Human Disease (DOID:0080555)|
|is a type of:||
OTHER congenital disorder of glycosylation Ic PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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