Term Name: congenital disorder of glycosylation type IIm
Synonyms: CDG IIm, CDGIIm, congenital disorder of glycosylation type 2m, DEE22, developmental and epileptic encephalopathy 22, EIEE22, epileptic encephalopathy, early infantile, 22, SLC35A2-CDG
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.
Ontology: Human Disease [DOID:0070265]   ( DOID:0070265 )

Relationships
is a type of: congenital disorder of glycosylation type II X-linked dominant disease