OBO ID: DOID:0080437
Term Name: developmental and epileptic encephalopathy 31A Search Ontology:
Synonyms:
  • DEE31
  • DEE31A
  • developmental and epileptic encephalopathy 31
  • early infantile epileptic encephalopathy 31
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. (2)
References:
Ontology: Human Disease   ( DOID:0080437 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 31A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNM1 Developmental and epileptic encephalopathy 31A, autosomal dominant 616346
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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