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Metadata
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

GARD:12391

OMIM:616056

Synonyms

DEE26 [EXACT]

early infantile epileptic encephalopathy 26 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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