OBO ID: DOID:0080449
Term Name: developmental and epileptic encephalopathy 16 Search Ontology:
Synonyms:
  • DEE16
  • early infantile epileptic encephalopathy 16
Definition: A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. (2)
References:
Ontology: Human Disease   (DOID:0080449)
OTHER developmental and epileptic encephalopathy 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBC1D24 Developmental and epileptic encephalopathy 16 615338
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None