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developmental and epileptic encephalopathy 36 (DOID:0080470)
Alliance: disease page
Synonyms: congenital disorder of glycosylation, type Is; early infantile epileptic encephalopathy 36
Alt IDs: OMIM:300884, ORDO:324422
Definition: A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory