OBO ID: DOID:0080467
Term Name: developmental and epileptic encephalopathy 2 Search Ontology:
Synonyms:
  • DEE2
  • early infantile epileptic encephalopathy 2
  • EIEE2
  • X-linked infantile spasm syndrome 2
Definition: A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (2)
References:
Ontology: Human Disease   ( DOID:0080467 )
OTHER developmental and epileptic encephalopathy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDKL5 Developmental and epileptic encephalopathy 2 300672
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None