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 the MDH1 gene on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/31538237/
References:
Ontology: Human Disease   ( DOID:0112222 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.