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Human Disease

developmental and epileptic encephalopathy 109

Term ID
DOID:0070378
Synonyms
  • DEE109
Definition
A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/34788397/
References
Ontology
Human Disease   ( DOID:0070378 )
Relationships
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