OBO ID: DOID:0080453
Term Name: developmental and epileptic encephalopathy 25 Search Ontology:
Synonyms:
  • DEE25
  • developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
  • early infantile epileptic encephalopathy 25
Definition: A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (2)
References:
Ontology: Human Disease   (DOID:0080453)
OTHER developmental and epileptic encephalopathy 25 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC13A5 Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta 615905
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None