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Human Disease

developmental and epileptic encephalopathy 39

Term ID
DOID:0080349
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 )
Relationships
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Genes Involved
Zebrafish Models