leukodystrophy, hypomyelinating, 12
MONDO:0014732Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.
Definition from the Mondo Disease Ontology (MONDO:0014732), read 2026-09-29. CC BY 4.0.
Features
33 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.
- Flexion contractureHPOHP:0001371
- 20 of 20 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 20 of 20 reported patients
- Frequent (30% to 79% of cases)
- Cerebral visual impairmentHPOHP:0100704
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Frequent (30% to 79% of cases)
- Abnormal periventricular white matter morphologyHPOHP:0002518
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
Reported absent (2)
- Coarse facial featuresHPOHP:0000280
- HepatosplenomegalyHPOHP:0001433
Show the remaining 21
- Delayed CNS myelinationHPOHP:0002188
- Frequent (30% to 79% of cases)
- Diffuse white matter abnormalitiesHPOHP:0007204
- Frequent (30% to 79% of cases)
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Multiple joint contracturesHPOHP:0002828
- Frequent (30% to 79% of cases)
- Neurogenic bladderHPOHP:0000011
- Frequent (30% to 79% of cases)
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.
- VPS11HGNC:14583
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: leukodystrophy, hypomyelinating, 12
- Also called
- HLD12hypomyelinating leukodystrophy 12hypomyelinating leukodystrophy type 12leukodystrophy caused by mutation in VPS11leukodystrophy, hypomyelinating, type 12VPS11 leukodystrophyVPS11-related autosomal recessive hypomyelinating leukoencephalopathy