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Disease Ontology Browser
congenital disorder of glycosylation Il (DOID:0080564)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1l
Alt IDs: OMIM:608776, ORDO:79328
Definition: A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory