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Human Disease

developmental and epileptic encephalopathy 38

Term ID
DOID:0080417
Synonyms
  • DEE38
  • early infantile epileptic encephalopathy 38
Definition
A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. (3)
References
Ontology
Human Disease   ( DOID:0080417 )
Relationships
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Genes Involved
Zebrafish Models