episodic ataxia, type 9
MONDO:0030064Mondo
Findings
No curated finding names episodic ataxia, type 9 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
15 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.
- Arachnoid cystHPOHP:0100702
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 4 reported patients · Neonatal onset
- 1 of 1 reported patient
- Cerebellar edemaHPOHP:0030915
- 1 of 1 reported patient
- Delayed ability to standHPOHP:0025335
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- Episodic ataxiaHPOHP:0002131
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Status epilepticusHPOHP:0002133
- 1 of 1 reported patient
- Tonic seizureHPOHP:0032792
- 1 of 4 reported patients · Neonatal onset
- 1 of 1 reported patient
- VertigoHPOHP:0002321
- 1 of 1 reported patient
Show the remaining 3
- VomitingHPOHP:0002013
- 1 of 1 reported patient
- Paroxysmal vertigoHPOHP:0010532
- 2 of 4 reported patients
- Clonic seizureHPOHP:0020221
- 1 of 4 reported patients · Neonatal onset
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.
- SCN2AHGNC:10588
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: episodic ataxia, type 9
- Also called
- EA9