developmental and epileptic encephalopathy 93
MONDO:0020632Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 93 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 · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 4 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 3 reported patients
- Absent speechHPOHP:0001344
- 2 of 4 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 2 of 4 reported patients
- Focal-onset seizureHPOHP:0007359
- 2 of 4 reported patients
- HypotoniaHPOHP:0001252
- 2 of 4 reported patients
- Inability to walkHPOHP:0002540
- 2 of 4 reported patients
- Infantile spasmsHPOHP:0012469
- 2 of 4 reported patients
- Spastic tetraparesisHPOHP:0001285
- 2 of 4 reported patients
Show the remaining 8
- Tonic seizureHPOHP:0032792
- 2 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 4 reported patients
- Clonic seizureHPOHP:0020221
- 1 of 4 reported patients
- CNS hypomyelinationHPOHP:0003429
- 1 of 4 reported patients
- Iris colobomaHPOHP:0000612
- 1 of 4 reported patients
Genes
2 genes
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.
- ATP6V1AHGNC:851
- Definitive · G2P · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- ATP6V1B2HGNC:854
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
2 names
Resolves to: developmental and epileptic encephalopathy 93
- Also called
- DEE93epileptic encephalopathy, infantile or early childhood, 3