About   Help   FAQ
Disease Ontology Browser
congenital disorder of glycosylation Ie (DOID:0080557)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1e
Alt IDs: OMIM:608799, ORDO:79322
Definition: A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.

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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.21
The Jackson Laboratory