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Human Disease

developmental and epileptic encephalopathy 16

Term ID
DOID:0080449
Synonyms
  • DEE16
  • early infantile epileptic encephalopathy 16
Definition
A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. (2)
References
Ontology
Human Disease   ( DOID:0080449 )
Relationships
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Genes Involved
Zebrafish Models