OBO ID: DOID:0112210
Term Name: developmental and epileptic encephalopathy 74 Search Ontology:
Synonyms:
  • DEE74
  • early infantile epileptic encephalopathy 74
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. https://pubmed.ncbi.nlm.nih.gov/27864268/
References:
Ontology: Human Disease   ( DOID:0112210 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 74 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GABRG2 Developmental and epileptic encephalopathy 74 618396
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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