OBO ID: DOID:0112222
Term Name: developmental and epileptic encephalopathy 88 Search Ontology:
Synonyms:
  • DEE88
  • early infantile epileptic encephalopathy 88
Definition: A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in MDH1 on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/31538237/
References:
Ontology: Human Disease   (DOID:0112222)
OTHER developmental and epileptic encephalopathy 88 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MDH1 ?Developmental and epileptic encephalopathy 88 618959
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None