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Human Disease

developmental and epileptic encephalopathy 46

Term ID
DOID:0080456
Synonyms
  • DEE46
  • early infantile epileptic encephalopathy 46
Definition
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. (2)
References
Ontology
Human Disease   ( DOID:0080456 )
Relationships
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Zebrafish Models