developmental and epileptic encephalopathy, 70
MONDO:0032663Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 70 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
22 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.
- Epileptic spasmHPOHP:0011097
- 2 of 2 reported patients · Infantile onset
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Spastic tetraparesisHPOHP:0001285
- 1 of 1 reported patient
- Tonic seizureHPOHP:0032792
- 2 of 2 reported patients · Infantile onset
- Autistic behaviorHPOHP:0000729
- 1 of 2 reported patients
Show the remaining 10
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 2 reported patients
- HypertelorismHPOHP:0000316
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Low-set earsHPOHP:0000369
- 1 of 2 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.
- PHACTR1HGNC:20990
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 70
- Also called
- DEE70developmental and epileptic encephalopathy 70EIEE70EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70