OBO ID: DOID:0112275
Term Name: developmental and epileptic encephalopathy 93 Search Ontology:
Synonyms:
  • DEE93
  • IECEE3
  • infantile or early childhood epileptic encephalopathy 3
Definition: A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. https://pubmed.ncbi.nlm.nih.gov/29668857/
References:
Ontology: Human Disease   ( DOID:0112275 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 93 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP6V1A Developmental and epileptic encephalopathy 93 618012
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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