developmental and epileptic encephalopathy, 31A
MONDO:0014598Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 31A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile 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.
- Absent speechHPOHP:0001344
- 5 of 5 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 5 of 5 reported patients
- Epileptic spasmHPOHP:0011097
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Inability to walkHPOHP:0002540
- 4 of 5 reported patients
- Atypical absence seizureHPOHP:0007270
- 3 of 5 reported patients
- HypsarrhythmiaHPOHP:0002521
- 3 of 5 reported patients
- Tonic seizureHPOHP:0032792
- 3 of 5 reported patients
- Atypical absence status epilepticusHPOHP:0011151
- 2 of 5 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 5 reported patients
Show the remaining 8
- Diffuse cerebral atrophyHPOHP:0002506
- 2 of 5 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 5 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 5 reported patients
- Self-injurious behaviorHPOHP:0100716
- 2 of 5 reported patients
- Atonic seizureHPOHP:0010819
- 2 of 10 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 5 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.
- DNM1HGNC:2972
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2015
Where it sits
Other names
3 names
Resolves to: developmental and epileptic encephalopathy, 31A
- Also called
- DEE31Adevelopmental and epileptic encephalopathy 31A, autosomal dominantDNM1 early infantile epileptic encephalopathy