developmental and epileptic encephalopathy 103
MONDO:0030957Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 103 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
32 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
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- DroolingHPOHP:0002307
- 1 of 1 reported patient
- EEG with burst suppressionHPOHP:0010851
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
- 1 of 1 reported patient
- Epileptic spasmHPOHP:0011097
- 2 of 2 reported patients
- Eyelid myoclonusHPOHP:0025097
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- OpisthotonusHPOHP:0002179
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
Show the remaining 20
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Spastic tetraplegiaHPOHP:0002510
- 1 of 1 reported patient
- Tonic seizureHPOHP:0032792
- 1 of 1 reported patient
- Tonic status epilepticusHPOHP:0032670
- 1 of 1 reported patient
- TrismusHPOHP:0000211
- 1 of 1 reported patient
- Myoclonic seizureHPOHP:0032794
- 7 of 8 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.
- KCNC2HGNC:6234
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 103
- Also called
- DEE103