developmental and epileptic encephalopathy, 90
MONDO:0025353Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 90 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Neonatal 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.
- Focal-onset seizureHPOHP:0007359
- 6 of 7 reported patients
- Apneic episodes in infancyHPOHP:0005949
- 5 of 7 reported patients · Neonatal onset
- Severe global developmental delayHPOHP:0011344
- 5 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 4 of 7 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 7 reported patients
- HypsarrhythmiaHPOHP:0002521
- 3 of 7 reported patients
- Limb hypertoniaHPOHP:0002509
- 3 of 7 reported patients
- HypotoniaHPOHP:0001252
- 2 of 7 reported patients
- Profound global developmental delayHPOHP:0012736
- 2 of 7 reported patients
- Abdominal painHPOHP:0002027
- 1 of 7 reported patients
- Ankle clonusHPOHP:0011448
- 1 of 7 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 7 reported patients
Show the remaining 8
- Babinski signHPOHP:0003487
- 1 of 7 reported patients
- ConstipationHPOHP:0002019
- 1 of 7 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 7 reported patients
- EEG with burst suppressionHPOHP:0010851
- 1 of 7 reported patients
- Fetal pyelectasisHPOHP:0010945
- 1 of 7 reported patients · Fetal onset
- Focal impaired awareness seizureHPOHP:0002384
- 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.
- FGF13HGNC:3670
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2023
- Limited · G2P · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: developmental and epileptic encephalopathy, 90
- Also called
- DEE90developmental and epileptic encephalopathy 90developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant