epilepsy, early-onset, 3, with or without developmental delay
MONDO:0958196Mondo
Findings
No curated finding names epilepsy, early-onset, 3, with or without developmental delay 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 · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- Atonic seizureHPOHP:0010819
- 6 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 13 of 13 reported patients
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 4 of 4 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 2 reported patients
- Focal-onset seizureHPOHP:0007359
- 4 of 4 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 6 of 6 reported patients
- Infantile spasmsHPOHP:0012469
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
Show the remaining 8
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
- Multifocal seizuresHPOHP:0031165
- 1 of 1 reported patient
- Myoclonic seizureHPOHP:0032794
- 5 of 5 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 4 of 4 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 4 of 4 reported patients
Genes
1 gene
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.
- ATP6V0CHGNC:855
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of