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Human Disease

developmental and epileptic encephalopathy 82

Term ID
DOID:0080715
Synonyms
  • DEE82
  • early infantile epileptic encephalopathy 82
Definition
A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. https://pubmed.ncbi.nlm.nih.gov/31422819/
References
Ontology
Human Disease   ( DOID:0080715 )
Relationships
is a type of
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Genes Involved
Zebrafish Models