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Human Disease
developmental and epileptic encephalopathy 85
- Term ID
- DOID:0070380
- Synonyms
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- DEE85
- early infantile epileptic encephalopathy 85
- Definition
- A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. (2)
- References
- Ontology
- Human Disease ( DOID:0070380 )
- is a type of
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