neurodevelopmental disorder with or without early-onset generalized epilepsy
MONDO:0030930Mondo
Findings
No curated finding names neurodevelopmental disorder with or without early-onset generalized epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- Delayed speech and language developmentHPOHP:0000750
- 24 of 24 reported patients
- Global developmental delayHPOHP:0001263
- 24 of 24 reported patients
- SeizureHPOHP:0001250
- 15 of 24 reported patients
- Autistic behaviorHPOHP:0000729
- 12 of 24 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 12 of 24 reported patients
- Interictal epileptiform activityHPOHP:0011182
- 9 of 24 reported patients
- Delayed ability to walkHPOHP:0031936
- 8 of 22 reported patients
- HypotoniaHPOHP:0001252
- 8 of 24 reported patients
- Myoclonic seizureHPOHP:0032794
- 7 of 24 reported patients
- Broad-based gaitHPOHP:0002136
- 6 of 24 reported patients
- Focal-onset seizureHPOHP:0007359
- 5 of 24 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 5 of 24 reported patients
Show the remaining 7
- Aggressive behaviorHPOHP:0000718
- 4 of 24 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 4 of 24 reported patients
- DystoniaHPOHP:0001332
- 3 of 24 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 3 of 24 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 24 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 24 reported patients
Genes
2 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.
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with or without early-onset generalized epilepsy
- Also called
- NEDEGE