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Ontology Browser

Term:
Developmental and Epileptic Encephalopathy 104 (DOID:9001426)
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Parent Terms Term With Siblings Child Terms
Developmental and Epileptic Encephalopathy 104 
An autosomal dominant disorder characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures. Caused by heterozygous mutation in the ATP6V0A1 on chromosome 17q21.

Synonyms
Exact Synonyms: DEE104
Replaced By: DOID:0070390
Definition Sources: OMIM:619970

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