Term Name: | developmental and epileptic encephalopathy 36 |
---|---|
Synonyms: | congenital disorder of glycosylation, type Is, early infantile 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. |
Ontology: | Human Disease [DOID:0080470] ( DOID:0080470 ) |