developmental and epileptic encephalopathy 113
MONDO:0958330Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 113 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
24 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.
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Elevated brain lactate level by MRSHPOHP:0012707
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Interictal EEG abnormalityHPOHP:0025373
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 2 reported patients
- Postnatal growth retardationHPOHP:0008897
- 2 of 2 reported patients
- Reduced brain N-acetyl aspartate level by MRSHPOHP:0012708
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 2 of 2 reported patients
- Tonic seizureHPOHP:0032792
- 2 of 2 reported patients
Show the remaining 12
- VentriculomegalyHPOHP:0002119
- 2 of 2 reported patients
- Ankle clonusHPOHP:0011448
- 1 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 2 reported patients
- EEG with burst suppressionHPOHP:0010851
- 1 of 2 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 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.
- SV2AHGNC:20566
- Moderate · PanelApp Australia · Semidominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024