developmental and epileptic encephalopathy, 60
MONDO:0033369Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 60 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
14 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.
- Epileptic encephalopathyHPOHP:0200134
- 3 of 3 reported patients
- Epileptic spasmHPOHP:0011097
- 3 of 3 reported patients
- Global brain atrophyHPOHP:0002283
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Hippocampal malrotationHPOHP:0034396
- 3 of 3 reported patients
- HypsarrhythmiaHPOHP:0002521
- 3 of 3 reported patients · Infantile onset
- Inability to walkHPOHP:0002540
- 3 of 3 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients · Infantile onset
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 3 reported patients
- Myoclonic seizureHPOHP:0032794
- 2 of 3 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 2 of 3 reported patients
Show the remaining 2
- EEG with burst suppressionHPOHP:0010851
- 1 of 3 reported patients · Infantile onset
- Tonic seizureHPOHP:0032792
- 1 of 3 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.
- CNPY3HGNC:11968
- Strong · G2P · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 60
- Also called
- DEE60developmental and epileptic encephalopathy 60EIEE60epileptic encephalopathy, early infantile, 60