congenital disorder of glycosylation type IIm

Term ID

DOID:0070265

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. https://www.ncbi.nlm.nih.gov/pubmed/23561849

References

• GARD:12403
• OMIM:300896
• ORDO:356961

Ontology

Human Disease   ( DOID:0070265 )