OBO ID: DOID:0080433
Term Name: developmental and epileptic encephalopathy 51 Search Ontology:
Synonyms:
  • DEE51
  • early infantile epileptic encephalopathy 51
Definition: A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. https://www.ncbi.nlm.nih.gov/pubmed/27989324
References:
Ontology: Human Disease   (DOID:0080433)
OTHER developmental and epileptic encephalopathy 51 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MDH2 Developmental and epileptic encephalopathy 51 617339
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None