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Disease Ontology Browser
congenital disorder of glycosylation Ic (DOID:0080555)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1c
Alt IDs: OMIM:603147, ORDO:79320
Definition: A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.


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
02/18/2020
MGI 6.14
The Jackson Laboratory