OBO ID: DOID:0080573 |
Term Name: | congenital disorder of glycosylation Ix | Search Ontology: | |
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Definition: | A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. https://www.ncbi.nlm.nih.gov/pubmed/23842455 | ||
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Ontology: | Human Disease ( DOID:0080573 ) |
OTHER congenital disorder of glycosylation Ix PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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