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ZIRC
OBO ID: DOID:0080572
Term Name: congenital disorder of glycosylation Iw Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1w
Definition: A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. https://www.ncbi.nlm.nih.gov/pubmed/23842455
References:
Ontology: Human Disease   (DOID:0080572)
OTHER congenital disorder of glycosylation Iw PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STT3A ?Congenital disorder of glycosylation, type Iw 615596
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None