developmental and epileptic encephalopathy 104
MONDO:0031021Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 104 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
HPO, annotations 2026-09-02
Features
18 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 ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- AgitationHPOHP:0000713
- 1 of 2 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 2 reported patients
- Clonic seizureHPOHP:0020221
- 1 of 2 reported patients
- Delayed ability to roll overHPOHP:0032989
- 1 of 2 reported patients
- Epileptic spasmHPOHP:0011097
- 1 of 2 reported patients
Show the remaining 6
- HyperactivityHPOHP:0000752
- 1 of 2 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 2 reported patients
- Poor suckHPOHP:0002033
- 1 of 2 reported patients
- Self-injurious behaviorHPOHP:0100716
- 1 of 2 reported patients
- Tonic seizureHPOHP:0032792
- 1 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 1 of 2 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.
- ATP6V0A1HGNC:865
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 104
- Also called
- DEE104