developmental and epileptic encephalopathy 115
MONDO:0968946Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 115 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
- Congenital 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.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 4 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- LeukoencephalopathyHPOHP:0002352
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Optic nerve hypoplasiaHPOHP:0000609
- 1 of 1 reported patient
- Global brain atrophyHPOHP:0002283
- 4 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 4 reported patients
- Tube feedingHPOHP:0033454
- 3 of 4 reported patients
- EEG abnormalityHPOHP:0002353
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 4 reported patients
Show the remaining 8
- Agenesis of corpus callosumHPOHP:0001274
- 2 of 5 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 5 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 4 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 1 of 5 reported patients
- PachygyriaHPOHP:0001302
- 1 of 5 reported patients
- Abnormality of visual evoked potentialsHPOHP:0000649
- 0 of 1 reported patient
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.
- SNF8HGNC:17028
- Strong · PanelApp Australia · Autosomal recessive · 2025