OBO ID: DOID:0080441
Term Name: developmental and epileptic encephalopathy 49 Search Ontology:
Synonyms:
  • DEE49
  • early infantile epileptic encephalopathy 49
Definition: A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/27866705
References:
Ontology: Human Disease   (DOID:0080441)
OTHER developmental and epileptic encephalopathy 49 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DENND5A Developmental and epileptic encephalopathy 49 617281
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None