OBO ID: DOID:0080555 |
Term Name: | congenital disorder of glycosylation Ic | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0080555 ) |
OTHER congenital disorder of glycosylation Ic PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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