developmental and epileptic encephalopathy, 53
MONDO:0033362Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 53 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 · Neonatal 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 7 of 7 reported patients
- Feeding difficultiesHPOHP:0011968
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 7 of 7 reported patients
- Progressive neurologic deteriorationHPOHP:0002344
- 7 of 7 reported patients
- SeizureHPOHP:0001250
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 6 of 7 reported patients
- Myoclonic seizureHPOHP:0032794
- 6 of 7 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 5 of 7 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 7 reported patients
- Tonic seizureHPOHP:0032792
- 4 of 7 reported patients
Show the remaining 6
- HypsarrhythmiaHPOHP:0002521
- 3 of 7 reported patients
- Visual impairmentHPOHP:0000505
- 3 of 7 reported patients
- DystoniaHPOHP:0001332
- 2 of 6 reported patients
- Epileptic spasmHPOHP:0011097
- 2 of 7 reported patients
- Convulsive status epilepticusHPOHP:0032660
- 1 of 7 reported patients
- Thin corpus callosumHPOHP:0033725
- 1 of 7 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.
- SYNJ1HGNC:11503
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 53
- Also called
- DEE53developmental and epileptic encephalopathy 53EIEE53epileptic encephalopathy, early infantile, 53