developmental and epileptic encephalopathy, 38
Findings
No curated finding names developmental and epileptic encephalopathy, 38 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014868), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
18 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.
- AspirationHPOHP:0002835
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
Show the remaining 6
- Multifocal seizuresHPOHP:0031165
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- Profound global developmental delayHPOHP:0012736
- 1 of 1 reported patient
- Profound intellectual disabilityHPOHP:0002187
- 3 of 3 reported patients
- Retinal dystrophyHPOHP:0000556
- 1 of 1 reported patient
- Status epilepticusHPOHP:0002133
- 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.
- ARV1HGNC:29561
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 38
- Also called
- ARV1 early infantile epileptic encephalopathyDEE38developmental and epileptic encephalopathy 38early infantile epileptic encephalopathy caused by mutation in ARV1EIEE38epileptic encephalopathy, early infantile, 38epileptic encephalopathy, early infantile, 38; EIEE38epileptic encephalopathy, early infantile, type 38