OBO ID: DOID:0112209
Term Name: developmental and epileptic encephalopathy 73 Search Ontology:
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 developmental and epileptic encephalopathy 73 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RNF13 Developmental and epileptic encephalopathy 73 618379
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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