OBO ID: DOID:0080443
Term Name: developmental and epileptic encephalopathy 21 Search Ontology:
Synonyms:
  • DEE21
  • early infantile epileptic encephalopathy 21
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (2)
References:
Ontology: Human Disease   (DOID:0080443)
OTHER developmental and epileptic encephalopathy 21 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NECAP1 Developmental and epileptic encephalopathy 21 615833
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None