developmental and epileptic encephalopathy 111
MONDO:0957780Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 111 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Third trimester onset · Second trimester onset
HPO, annotations 2026-09-02
Features
34 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.
- AmblyopiaHPOHP:0000646
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Biventricular hypertrophyHPOHP:0200128
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Horizontal nystagmusHPOHP:0000666
- 1 of 1 reported patient
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- Kidney stoneHPOHP:0000787
- 1 of 1 reported patient
- Long eyelashesHPOHP:0000527
- 1 of 1 reported patient
- Premature ventricular contractionHPOHP:0006682
- 1 of 1 reported patient
Show the remaining 22
- Pulmonary artery stenosisHPOHP:0004415
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- SepsisHPOHP:0100806
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 7 of 7 reported patients
- Sinus tachycardiaHPOHP:0011703
- 1 of 1 reported patient
- Thick eyebrowHPOHP:0000574
- 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.
- DEPDC5HGNC:18423
- Strong · PanelApp Australia · Autosomal dominant · 2025