| Metadata | |
|---|---|
| ID | DOID:0070265 |
| Name | congenital disorder of glycosylation type IIm |
| 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 |
| Xrefs | |
| Alternateids |
DOID:0080469 |
| Subsets |
DO_rare_slim |
| Synonyms |
CDG IIm [EXACT] CDGIIm [EXACT] congenital disorder of glycosylation type 2m [EXACT] DEE22 [EXACT] developmental and epileptic encephalopathy 22 [EXACT] EIEE22 [EXACT] epileptic encephalopathy, early infantile, 22 [EXACT] SLC35A2-CDG [EXACT] |
| Parent Relationships |