developmental and epileptic encephalopathy, 69
MONDO:0032657Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 69 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
10 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.
- Axial hypotoniaHPOHP:0008936
- 30 of 30 reported patients
- Absent speechHPOHP:0001344
- 21 of 24 reported patients
- Inability to walkHPOHP:0002540
- 21 of 24 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 16 of 30 reported patients
- Congenital contractureHPOHP:0002803
- 13 of 30 reported patients · Congenital onset
- DystoniaHPOHP:0001332
- 12 of 30 reported patients
- Developmental regressionHPOHP:0002376
- 9 of 30 reported patients
- Status epilepticusHPOHP:0002133
- 2 of 30 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Congenital onset
- Epileptic encephalopathyHPOHP:0200134
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.
- CACNA1EHGNC:1392
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2019
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 69
- Also called
- DEE69developmental and epileptic encephalopathy 69EIEE69EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69