leukoencephalopathy with vanishing white matter 3
MONDO:0957871Mondo
Findings
No curated finding names leukoencephalopathy with vanishing white matter 3 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
- Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- HemianopiaHPOHP:0012377
- 1 of 1 reported patient
- LeukoencephalopathyHPOHP:0002352
- 3 of 3 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 1 reported patient
- Secondary amenorrheaHPOHP:0000869
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 4 of 5 reported patients
- DysarthriaHPOHP:0001260
- 1 of 5 reported patients
- SeizureHPOHP:0001250
- 1 of 5 reported patients
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.
- EIF2B3HGNC:3259
- Definitive · ClinGen · Autosomal recessive · 2024