OBO ID: DOID:0112219
Term Name: developmental and epileptic encephalopathy 84 Search Ontology:
Synonyms:
  • DEE84
  • early infantile epileptic encephalopathy 84
  • Jamuar syndrome
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in UGDH on chromosome 4p14. https://pubmed.ncbi.nlm.nih.gov/32001716/
References:
Ontology: Human Disease   (DOID:0112219)
OTHER developmental and epileptic encephalopathy 84 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UGDH Developmental and epileptic encephalopathy 84 618792
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None