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Human Disease
developmental and epileptic encephalopathy 64
- Term ID
- DOID:0070375
- Synonyms
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- DEE64
- early infantile epileptic encephalopathy 64
- Definition
- A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. (4)
- References
- Ontology
- Human Disease ( DOID:0070375 )
- is a type of
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