undetermined early-onset epileptic encephalopathy
Findings
No curated finding names undetermined early-onset epileptic encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018614), read 2026-09-29. CC BY 4.0.
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EncephalopathyHPOHP:0001298
- Very frequent (80% to 99% of cases)
- Abnormality of coordinationHPOHP:0011443
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- EEG with multifocal slow activityHPOHP:0010844
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Generalized hypotonia
Show the remaining 36
- Abnormal myelinationHPOHP:0012447
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
- Occasional (5% to 29% of cases)
- AutismHPOHP:0000717
- Occasional (5% to 29% of cases)
- Brain atrophyHPOHP:0012444
- Occasional (5% to 29% of cases)
Genes
38 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AARS1HGNC:20
- Definitive · Illumina · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- CACNA1AHGNC:1388
- Definitive · Illumina · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- YWHAGHGNC:12852
- Strong · G2P · Autosomal dominant · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- ACTL6BHGNC:160
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (16)
- developmental and epileptic encephalopathy, 13
- developmental and epileptic encephalopathy, 21
- developmental and epileptic encephalopathy, 24
- developmental and epileptic encephalopathy, 25
- developmental and epileptic encephalopathy, 26
- developmental and epileptic encephalopathy, 28
- developmental and epileptic encephalopathy, 29
- developmental and epileptic encephalopathy, 31A
- developmental and epileptic encephalopathy, 32
- developmental and epileptic encephalopathy, 33
- developmental and epileptic encephalopathy, 41
- developmental and epileptic encephalopathy, 42
- developmental and epileptic encephalopathy, 44
- developmental and epileptic encephalopathy, 45
Other names
2 names
Resolves to: undetermined early-onset epileptic encephalopathy
- Also called
- non-specific early-onset epileptic encephalopathyundetermined EOEE