developmental and epileptic encephalopathy, 72
MONDO:0032710Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 72 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
18 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.
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Delayed ability to sitHPOHP:0025336
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypsarrhythmiaHPOHP:0002521
- 2 of 2 reported patients
- Infantile spasmsHPOHP:0012469
- 2 of 2 reported patients
- AstigmatismHPOHP:0000483
- 1 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 2 reported patients
- DysphagiaHPOHP:0002015
- 1 of 2 reported patients
- EsotropiaHPOHP:0000565
- 1 of 2 reported patients
Show the remaining 6
- Hyperkinetic movementsHPOHP:0002487
- 1 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 2 reported patients
- Inability to walkHPOHP:0002540
- 1 of 2 reported patients
- Periventricular white matter hyperintensitiesHPOHP:0030891
- 1 of 2 reported patients
- Reduced eye contactHPOHP:0000817
- 1 of 2 reported patients
- 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.
- NEUROD2HGNC:7763
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 72
- Also called
- DEE72developmental and epileptic encephalopathy 72EIEE72EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72