Search Ontology:
Human Disease

developmental and epileptic encephalopathy 40

Term ID
DOID:0080427
Synonyms
  • DEE40
  • early infantile epileptic encephalopathy 40
Definition
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. https://www.ncbi.nlm.nih.gov/pubmed/26486472
References
Ontology
Human Disease   ( DOID:0080427 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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