OBO ID: DOID:0080448
Term Name: developmental and epileptic encephalopathy 48 Search Ontology:
Synonyms:
  • DEE48
  • early infantile epileptic encephalopathy 48
Definition: A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. https://www.ncbi.nlm.nih.gov/pubmed/27889060
References:
Ontology: Human Disease   (DOID:0080448)
OTHER developmental and epileptic encephalopathy 48 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AP3B2 Developmental and epileptic encephalopathy 48 617276
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None