developmental and epileptic encephalopathy, 84
MONDO:0032918Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 84 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
31 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.
- SeizureHPOHP:0001250
- 30 of 30 reported patients
- Delayed ability to sitHPOHP:0025336
- 28 of 30 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 27 of 30 reported patients
- Axial hypotoniaHPOHP:0008936
- 35 of 60 reported patients
- Epileptic spasmHPOHP:0011097
- 16 of 30 reported patients
- SpasticityHPOHP:0001257
- 13 of 30 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 12 of 30 reported patients
- HyperreflexiaHPOHP:0001347
- 9 of 30 reported patients
- Generalized hypotoniaHPOHP:0001290
- 7 of 30 reported patients
- Smooth philtrumHPOHP:0000319
- 7 of 30 reported patients
- DystoniaHPOHP:0001332
- 5 of 30 reported patients
- Thick lower lip vermilionHPOHP:0000179
- 4 of 30 reported patients
Show the remaining 19
- EpicanthusHPOHP:0000286
- 3 of 30 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 30 reported patients
- Short palpebral fissureHPOHP:0012745
- 3 of 30 reported patients
- AreflexiaHPOHP:0001284
- 2 of 30 reported patients
- Babinski signHPOHP:0003487
- 2 of 30 reported patients
- OpisthotonusHPOHP:0002179
- 2 of 30 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.
- UGDHHGNC:12525
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 84
- Also called
- DEE84developmental and epileptic encephalopathy 84EIEE84EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84UGDH-Related Disorder