Metadata | |
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ID | DOID:0080461 |
Name | developmental and epileptic encephalopathy 26 |
Definition | A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/25164438 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
DEE26 [EXACT] early infantile epileptic encephalopathy 26 [EXACT] |
Parent Relationships |