congenital disorder of glycosylation type IIm (DOID:0070265)
Alliance: disease page
Synonyms: congenital disorder of glycosylation type 2m; developmental and epileptic encephalopathy 22; epileptic encephalopathy, early infantile, 22; SLC35A2-CDG
Alt IDs: OMIM:300896, ORDO:356961
Definition: A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.