OBO ID: DOID:0080424
Term Name: developmental and epileptic encephalopathy 44 Search Ontology:
Synonyms:
  • DEE44
  • early infantile epileptic encephalopathy 44
Definition: A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. (2)
References:
Ontology: Human Disease   (DOID:0080424)
OTHER developmental and epileptic encephalopathy 44 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UBA5 Developmental and epileptic encephalopathy 44 617132
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None