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Human Disease

developmental and epileptic encephalopathy 21

Term ID
DOID:0080443
Synonyms
  • DEE21
  • early infantile epileptic encephalopathy 21
Definition
A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (2)
References
Ontology
Human Disease   ( DOID:0080443 )
Relationships
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Genes Involved
Zebrafish Models