Search Ontology:
Human Disease

developmental and epileptic encephalopathy 54

Term ID
DOID:0080418
Synonyms
  • DEE54
  • early infantile epileptic encephalopathy 54
Definition
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. https://www.ncbi.nlm.nih.gov/pubmed/27652284
References
Ontology
Human Disease   ( DOID:0080418 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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