OBO ID: DOID:0080418
Term Name: developmental and epileptic encephalopathy 54 Search Ontology:
Synonyms:
  • DEE54
  • early infantile epileptic encephalopathy 54
Definition: A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. https://www.ncbi.nlm.nih.gov/pubmed/27652284
References:
Ontology: Human Disease   ( DOID:0080418 )
OTHER developmental and epileptic encephalopathy 54 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HNRNPU Developmental and epileptic encephalopathy 54 617391
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None