OBO ID: DOID:0080415
Term Name: developmental and epileptic encephalopathy 23 Search Ontology:
Synonyms:
  • DEE23
  • early infantile epileptic encephalopathy 23
  • Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
  • Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. https://www.ncbi.nlm.nih.gov/pubmed/24814191
References:
Ontology: Human Disease   (DOID:0080415)
OTHER developmental and epileptic encephalopathy 23 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DOCK7 Developmental and epileptic encephalopathy 23 615859
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None