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Human Disease
developmental and epileptic encephalopathy 38
- Term ID
- DOID:0080417
- Synonyms
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- 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 )
- is a type of
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