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Disease Ontology Browser
congenital disorder of glycosylation Ix (DOID:0080573)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1x
Alt IDs: OMIM:615597, ORDO:370924
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory