developmental and epileptic encephalopathy 100
MONDO:0030695Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 100 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
66 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.
- Abnormal conjugate eye movementHPOHP:0000549
- 1 of 1 reported patient
- Acral blisteringHPOHP:0031045
- 1 of 1 reported patient
- AspirationHPOHP:0002835
- 1 of 1 reported patient
- Bilateral camptodactylyHPOHP:0005617
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Broad nasal tipHPOHP:0000455
- 1 of 1 reported patient
- Central sleep apneaHPOHP:0010536
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- EEG with photoparoxysmal responseHPOHP:0010852
- 1 of 1 reported patient
Show the remaining 54
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- Enamel hypoplasiaHPOHP:0006297
- 1 of 1 reported patient
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Gingival overgrowthHPOHP:0000212
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 10 of 10 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.
- FBXO28HGNC:29046
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Illumina · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 100
- Also called
- DEE100