| Metadata | |
|---|---|
| ID | DOID:0080470 |
| Name | developmental and epileptic encephalopathy 36 |
| Definition | A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. https://www.ncbi.nlm.nih.gov/pubmed/23033978, https://www.ncbi.nlm.nih.gov/pubmed/26138355 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation, type Is [EXACT] early infantile epileptic encephalopathy 36 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |