developmental and epileptic encephalopathy, 87
MONDO:0030059Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 87 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
21 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.
- Bulbous noseHPOHP:0000414
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypertoniaHPOHP:0001276
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Prominent noseHPOHP:0000448
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients · Infantile onset
- Wide mouthHPOHP:0000154
- 3 of 3 reported patients
- Widely spaced teethHPOHP:0000687
- 3 of 3 reported patients
- HypotelorismHPOHP:0000601
- 2 of 3 reported patients
- Infantile spasmsHPOHP:0012469
- 2 of 3 reported patients · Infantile onset
- Cerebral atrophyHPOHP:0002059
- 1 of 3 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 3 reported patients
Show the remaining 9
- High palateHPOHP:0000218
- 1 of 3 reported patients
- Horizontal eyebrowHPOHP:0011228
- 1 of 3 reported patients
- HypertelorismHPOHP:0000316
- 1 of 3 reported patients
- Midface retrusionHPOHP:0011800
- 1 of 3 reported patients
- ScoliosisHPOHP:0002650
- 1 of 3 reported patients
- U-Shaped upper lip vermilionHPOHP:0010806
- 1 of 3 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.
- CDK19HGNC:19338
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 87
- Also called
- DEE87developmental and epileptic encephalopathy 87EIEE87EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87