Search Ontology:
Human Disease

developmental and epileptic encephalopathy 110

Term ID
DOID:0070395
Synonyms
  • DEE110
  • early infantile epileptic encephalopathy 110
Definition
A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/35293990/
References
Ontology
Human Disease   ( DOID:0070395 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models