Search Ontology:
Human Disease

developmental and epileptic encephalopathy 88

Term ID
DOID:0112222
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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