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Human Disease

congenital disorder of glycosylation Ix

Term ID
DOID:0080573
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models