developmental and epileptic encephalopathy, 35
MONDO:0014719Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 35 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
- Death in infancy · Infantile onset
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.
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- SeizureHPOHP:0001250
- 7 of 7 reported patients
- Feeding difficultiesHPOHP:0011968
- 6 of 7 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 7 reported patients
- CataractHPOHP:0000518
- 3 of 7 reported patients
- Abnormally high-pitched voiceHPOHP:0001620
- Brain atrophyHPOHP:0012444
- Delayed CNS myelinationHPOHP:0002188
- IrritabilityHPOHP:0000737
- Limb tremorHPOHP:0200085
- Status epilepticusHPOHP:0002133
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.
- ITPAHGNC:6176
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 35
- Also called
- DEE35developmental and epileptic encephalopathy 35EIEE35epileptic encephalopathy, early infantile, 35epileptic encephalopathy, early infantile, type 35