developmental and epileptic encephalopathy, 64
MONDO:0033373Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 64 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
41 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
- 10 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 10 of 10 reported patients
- SeizureHPOHP:0001250
- 10 of 10 reported patients
- HypotoniaHPOHP:0001252
- 9 of 10 reported patients
- Absent speechHPOHP:0001344
- 7 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 10 reported patients
- Developmental regressionHPOHP:0002376
- 5 of 10 reported patients
- Inability to walkHPOHP:0002540
- 5 of 10 reported patients
- Limb hypertoniaHPOHP:0002509
- 4 of 10 reported patients
- Paroxysmal dystoniaHPOHP:0002268
- 4 of 10 reported patients
- Status epilepticusHPOHP:0002133
- 4 of 10 reported patients
- DystoniaHPOHP:0001332
- 3 of 10 reported patients
Show the remaining 29
- Motor stereotypyHPOHP:0000733
- 3 of 10 reported patients
- ChoreaHPOHP:0002072
- 2 of 10 reported patients
- Deeply set eyeHPOHP:0000490
- 2 of 10 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 10 reported patients
- EpicanthusHPOHP:0000286
- 2 of 10 reported patients
- MacrotiaHPOHP:0000400
- 2 of 10 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.
- RHOBTB2HGNC:18756
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
6 names
Resolves to: developmental and epileptic encephalopathy, 64
- Also called
- DEE64developmental and epileptic encephalopathy 64EIEE64epileptic encephalopathy, early infantile, 64RHOBTB2 syndromeRHOBTB2-associated neurodevelopmental disorders