developmental and epileptic encephalopathy 119
Findings
No curated finding names developmental and epileptic encephalopathy 119 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures.
Definition from the Mondo Disease Ontology (MONDO:1060177), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
180 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.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- 1 of 1 reported patient
- Abnormal social developmentHPOHP:0025732
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 3 of 3 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
Show the remaining 168
- ChoreaHPOHP:0002072
- 1 of 1 reported patient
- Clonic seizureHPOHP:0020221
- 1 of 1 reported patient
- CNS hypomyelinationHPOHP:0003429
- 1 of 1 reported patient
- ComaHPOHP:0001259
- 1 of 1 reported patient
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- Deep philtrumHPOHP:0002002
- 1 of 1 reported patient
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.
- HGNC:10152HGNC:10152
- Strong · ClinGen · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: developmental and epileptic encephalopathy 119
- Also called
- DEE119RNU2-2 developmental and epileptic encephalopathyRNU2-2 syndrome