developmental and epileptic encephalopathy, 31B
MONDO:0957248Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 31B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Antenatal onset
HPO, annotations 2026-09-02
Features
39 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.
- Almond-shaped palpebral fissureHPOHP:0007874
- 1 of 1 reported patient
- Appendicular spasticityHPOHP:0034353
- 1 of 1 reported patient
- Choking episodesHPOHP:0030842
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 1 of 1 reported patient
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 2 of 2 reported patients
- Long palpebral fissureHPOHP:0000637
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Myoclonic seizureHPOHP:0032794
- 1 of 1 reported patient
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
Show the remaining 27
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Protruding tongueHPOHP:0010808
- 1 of 1 reported patient
- Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 1 reported patient
- Secondary microcephalyHPOHP:0005484
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 1 reported patient
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 · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal dominant · 2025
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: developmental and epileptic encephalopathy, 31B
- Also called
- DEE31Bdevelopmental and epileptic encephalopathy 31B, autosomal recessive