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Human Disease
developmental and epileptic encephalopathy 95
- Term ID
- DOID:0070382
- Synonyms
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- DEE95
- early infantile epileptic encephalopathy 95
- Definition
- A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. https://pubmed.ncbi.nlm.nih.gov/30269814/
- References
- Ontology
- Human Disease ( DOID:0070382 )
- is a type of
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