developmental and epileptic encephalopathy 31

Go to external page http://purl.obolibrary.org/obo/DOID_0080437


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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/25262651 http://purl.obolibrary.org/obo/ECO_0007645 url:https://pubmed.ncbi.nlm.nih.gov/25533962/ ]

This is just here as a test because I lose it

Term information

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.
has exact synonym
  • early infantile epileptic encephalopathy 31
  • DEE31
has obo namespace
  • disease_ontology
id
  • DOID:0080437