developmental and epileptic encephalopathy, 86
MONDO:0030054Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 86 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- Generalized amyotrophyHPOHP:0003700
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Myoclonic seizureHPOHP:0032794
- 2 of 2 reported patients · Infantile onset
- OligohydramniosHPOHP:0001562
- 2 of 2 reported patients · Antenatal onset
- Severe global developmental delayHPOHP:0011344
- 2 of 2 reported patients
- CNS hypomyelinationHPOHP:0003429
- 1 of 2 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 1 of 2 reported patients · Infantile onset
- MicrocephalyHPOHP:0000252
- 1 of 2 reported patients
- Small for gestational ageHPOHP:0001518
- 1 of 2 reported patients · Congenital onset
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.
- DALRD3HGNC:25536
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Illumina · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 86
- Also called
- DEE86developmental and epileptic encephalopathy 86EIEE86EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86