OBO ID: DOID:0112223
Term Name: developmental and epileptic encephalopathy 89 Search Ontology:
Synonyms:
  • DEE89
  • early infantile epileptic encephalopathy 89
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in GAD1 on chromosome 2q31.1. https://pubmed.ncbi.nlm.nih.gov/32282878/
References:
Ontology: Human Disease   (DOID:0112223)
OTHER developmental and epileptic encephalopathy 89 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GAD1 Developmental and epileptic encephalopathy 89 619124
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None