Term Name: | congenital disorder of glycosylation type IIm |
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Synonyms: | congenital disorder of glycosylation type 2m, developmental and epileptic encephalopathy 22, 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 ) |