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Human Disease

developmental and epileptic encephalopathy 105

Term ID
DOID:0070391
Synonyms
  • DEE105
  • early infantile epileptic encephalopathy 105
Definition
A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. https://pubmed.ncbi.nlm.nih.gov/33999436/
References
Ontology
Human Disease   ( DOID:0070391 )
Relationships
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Genes Involved
Zebrafish Models