leukoencephalopathy with vanishing white matter 5
MONDO:0957873Mondo
Findings
No curated finding names leukoencephalopathy with vanishing white matter 5 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
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Decreased CSF asialotransferrin to transferrin ratioHPOHP:6000447
- 7 of 7 reported patients
- Progressive neurologic deteriorationHPOHP:0002344
- 4 of 4 reported patients
- ComaHPOHP:0001259
- 3 of 4 reported patients
- MegalencephalyHPOHP:0001355
- 3 of 4 reported patients
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 1 of 4 reported patients
- Dilated third ventricleHPOHP:0007082
- 1 of 4 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 4 reported patients
- Loss of ambulationHPOHP:0002505
- 1 of 4 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.
- EIF2B5HGNC:3261
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2022