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ZIRC
OBO ID: DOID:0080573
Term Name: congenital disorder of glycosylation Ix Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1x
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
References:
Ontology: Human Disease   (DOID:0080573)
OTHER congenital disorder of glycosylation Ix PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STT3B ?Congenital disorder of glycosylation, type Ix 615597
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None