leukoencephalopathy with vanishing white matter 2
MONDO:0957870Mondo
Findings
No curated finding names leukoencephalopathy with vanishing white matter 2 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
10 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.
- CataractHPOHP:0000518
- 1 of 1 reported patient
- LeukoencephalopathyHPOHP:0002352
- 1 of 1 reported patient
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 1 reported patient
- Memory impairmentHPOHP:0002354
- 1 of 1 reported patient
- Premature ovarian insufficiencyHPOHP:0008209
- 2 of 2 reported patients
- Secondary amenorrheaHPOHP:0000869
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- Unsteady gaitHPOHP:0002317
- 1 of 2 reported patients · Juvenile onset
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 0 of 2 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.
- EIF2B2HGNC:3258
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025