leukoencephalopathy with vanishing white matter 4
MONDO:0957872Mondo
Findings
No curated finding names leukoencephalopathy with vanishing white matter 4 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
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- Cerebral cortical atrophyHPOHP:0002120
- 2 of 2 reported patients
- Corpus callosum atrophyHPOHP:0007371
- 2 of 2 reported patients
- LeukoencephalopathyHPOHP:0002352
- 4 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 2 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 2 reported patients
- DysarthriaHPOHP:0001260
- 1 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 2 reported patients
- Primary amenorrheaHPOHP:0000786
- 1 of 2 reported patients
- Secondary amenorrheaHPOHP:0000869
- 1 of 2 reported patients
- Unsteady gaitHPOHP:0002317
- 1 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.
- EIF2B4HGNC:3260
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025