developmental and epileptic encephalopathy, 2
Findings
No curated finding names developmental and epileptic encephalopathy, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.
Definition from the Mondo Disease Ontology (MONDO:0010396), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
63 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.
- EEG with generalized slow activityHPOHP:0010845
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Generalized tonic seizureHPOHP:0010818
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- 4 of 5 reported patients
- Occasional (5% to 29% of cases)
- Abnormal muscle toneHPOHP:0003808
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
Show the remaining 51
- ConstipationHPOHP:0002019
- 3 of 5 reported patients
- Frequent (30% to 79% of cases)
- Deep philtrumHPOHP:0002002
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Everted lower lip vermilionHPOHP:0000232
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.
- CDKL5HGNC:11411
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
7 names
Resolves to: developmental and epileptic encephalopathy, 2
- Also called
- CDKL5 early infantile epileptic encephalopathyDEE2developmental and epileptic encephalopathy 2, X-linked dominantearly infantile epileptic encephalopathy caused by mutation in CDKL5EIEE2epileptic encephalopathy, early infantile, 2epileptic encephalopathy, early infantile, type 2