Search Ontology:
Human Disease

developmental and epileptic encephalopathy 73

Term ID
DOID:0112209
Synonyms
  • DEE73
  • early infantile epileptic encephalopathy 73
Definition
A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. https://pubmed.ncbi.nlm.nih.gov/30595371/
References
Ontology
Human Disease   ( DOID:0112209 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models