OBO ID: DOID:0080430
Term Name: developmental and epileptic encephalopathy 65 Search Ontology:
Synonyms:
  • DEE65
  • early infantile epileptic encephalopathy 65
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. https://www.ncbi.nlm.nih.gov/pubmed/29534297
References:
Ontology: Human Disease   ( DOID:0080430 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 65 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYFIP2 Developmental and epileptic encephalopathy 65 618008
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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