OBO ID: DOID:0080349
Term Name: developmental and epileptic encephalopathy 39 Search Ontology:
Synonyms:
  • AGC1 deficiency
  • early infantile epileptic encephalopathy 39
  • epileptic encephalopathy with global cerebral demyelination
Definition: A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. (3)
References:
Ontology: Human Disease   (DOID:0080349)
OTHER developmental and epileptic encephalopathy 39 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A12 Developmental and epileptic encephalopathy 39 612949
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None