OBO ID: DOID:0080464
Term Name: developmental and epileptic encephalopathy 53 Search Ontology:
Synonyms:
  • DEE53
  • early infantile epileptic encephalopathy 53
Definition: A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/27435091
References:
Ontology: Human Disease   (DOID:0080464)
OTHER developmental and epileptic encephalopathy 53 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SYNJ1 Developmental and epileptic encephalopathy 53 617389
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None