developmental and epileptic encephalopathy, 81
MONDO:0032858Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 81 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
- Congenital onset
HPO, annotations 2026-09-02
Features
17 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.
- Downslanted palpebral fissuresHPOHP:0000494
- 6 of 6 reported patients
- EEG with burst suppressionHPOHP:0010851
- 6 of 6 reported patients
- EpicanthusHPOHP:0000286
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Peripheral neuropathyHPOHP:0009830
- 5 of 5 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 6 of 6 reported patients
- Severe muscular hypotoniaHPOHP:0006829
- 6 of 6 reported patients
- Infantile spasmsHPOHP:0012469
- 5 of 6 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 5 of 6 reported patients
- Concave nasal ridgeHPOHP:0011120
- 4 of 6 reported patients
- High palateHPOHP:0000218
- 4 of 6 reported patients
- Myopathic faciesHPOHP:0002058
- 4 of 6 reported patients
Show the remaining 5
- Small foreheadHPOHP:0000350
- 4 of 6 reported patients
- Myoclonic seizureHPOHP:0032794
- 3 of 6 reported patients
- Tonic seizureHPOHP:0032792
- 3 of 6 reported patients
- DolichocephalyHPOHP:0000268
- 2 of 6 reported patients
- Focal clonic seizureHPOHP:0002266
- 2 of 6 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.
- DMXL2HGNC:2938
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Limited · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 81
- Also called
- DEE81developmental and epileptic encephalopathy 81EIEE81EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81