developmental and epileptic encephalopathy, 66
MONDO:0054845Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 66 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
HPO, annotations 2026-09-02
Features
45 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.
- Delayed speech and language developmentHPOHP:0000750
- 13 of 13 reported patients
- Global developmental delayHPOHP:0001263
- 14 of 14 reported patients
- Intellectual disabilityHPOHP:0001249
- 14 of 14 reported patients
- SeizureHPOHP:0001250
- 14 of 14 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 12 of 13 reported patients
- Wide nasal bridgeHPOHP:0000431
- 10 of 13 reported patients
- Downturned corners of mouthHPOHP:0002714
- 9 of 13 reported patients
- Wide mouthHPOHP:0000154
- 9 of 13 reported patients
- Delayed ability to walkHPOHP:0031936
- 8 of 12 reported patients
- HypotoniaHPOHP:0001252
- 7 of 11 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 8 of 13 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 5 reported patients
Show the remaining 33
- Enlarged cisterna magnaHPOHP:0002280
- 8 of 14 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 5 of 9 reported patients
- HypertelorismHPOHP:0000316
- 7 of 13 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 6 of 13 reported patients
- Motor stereotypyHPOHP:0000733
- 6 of 14 reported patients
- Macrodontia of permanent maxillary central incisorHPOHP:0000675
- 3 of 9 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.
- PACS2HGNC:23794
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 66
- Also called
- DEE66developmental and epileptic encephalopathy 66EIEE66epileptic encephalopathy, early infantile, 66