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Non-specific early-onset epileptic encephalopathy
Disease definition
A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.
ORPHA:442835
Classification level: Disorder- Synonym(s):
- Non-specific EOEE
- Undetermined EOEE
- Undetermined early-onset epileptic encephalopathy
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Autosomal recessive or Not applicable or X-linked recessive
- Age of onset: Neonatal, Infancy
- ICD-10: G40.4
- OMIM: 301008 301058 614558 615476 615833 615871 615905 616056 616211 616339 616346 616366 616409 617020 617105 617106 617132 617153 617162 617166 617665 617829 617830 617831 617836 617854 617938 618008 618012 618201 618396 618437 618468 618557 618559 618910 618916 618959 619124 619561 619605 619606 619777 619814 619881 619913 619922 619938 619970 620033
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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