developmental and epileptic encephalopathy, 65
MONDO:0033374Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 65 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
15 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.
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- EEG with burst suppressionHPOHP:0010851
- 3 of 4 reported patients
- Generalized hypotoniaHPOHP:0001290
- 3 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 4 reported patients
- Highly arched eyebrowHPOHP:0002553
- 2 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 4 reported patients
- HypsarrhythmiaHPOHP:0002521
- 2 of 4 reported patients
- PlagiocephalyHPOHP:0001357
- 1 of 4 reported patients
- SpasticityHPOHP:0001257
- 1 of 4 reported patients
- Tented upper lip vermilionHPOHP:0010804
- 1 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
Show the remaining 3
- Cerebral atrophyHPOHP:0002059
- Epileptic encephalopathyHPOHP:0200134
- VentriculomegalyHPOHP:0002119
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.
- CYFIP2HGNC:13760
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 65
- Also called
- DEE65developmental and epileptic encephalopathy 65EIEE65epileptic encephalopathy, early infantile, 65