developmental and epileptic encephalopathy, 80
MONDO:0032822Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 80 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
- Death in infancy
HPO, annotations 2026-09-02
Features
45 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.
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- SeizureHPOHP:0001250
- 14 of 14 reported patients · Infantile onset
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 8 of 9 reported patients
- Generalized hypotoniaHPOHP:0001290
- 7 of 8 reported patients
- Hearing impairmentHPOHP:0000365
- 7 of 14 reported patients
- Small nailHPOHP:0001792
- 5 of 14 reported patients
- Uplifted earlobeHPOHP:0009909
- 5 of 14 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 9 reported patients
- Overfolded helixHPOHP:0000396
- 3 of 9 reported patients
- Coarse facial featuresHPOHP:0000280
- 4 of 14 reported patients
- High palateHPOHP:0000218
- 2 of 9 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 2 of 9 reported patients
Show the remaining 33
- Protruding tongueHPOHP:0010808
- 2 of 9 reported patients
- Wide nasal bridgeHPOHP:0000431
- 2 of 9 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 14 reported patients
- Long philtrumHPOHP:0000343
- 3 of 14 reported patients
- Low-set earsHPOHP:0000369
- 3 of 14 reported patients
- Triphalangeal thumbHPOHP:0001199
- 3 of 14 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.
- PIGBHGNC:8959
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Moderate · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 80
- Also called
- DEE80developmental and epileptic encephalopathy 80EIEE80EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80