leukoencephalopathy, hereditary diffuse, with spheroids 2
MONDO:0030634Mondo
Findings
No curated finding names leukoencephalopathy, hereditary diffuse, with spheroids 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult 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.
- DementiaHPOHP:0000726
- 2 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients
- Mental deteriorationHPOHP:0001268
- 2 of 2 reported patients
- RigidityHPOHP:0002063
- 2 of 2 reported patients
- Vegetative stateHPOHP:0031358
- 2 of 2 reported patients
- Cheyne-Stokes respirationHPOHP:0012196
- 1 of 2 reported patients
- DystoniaHPOHP:0001332
- 1 of 2 reported patients
- Grasp reflexHPOHP:0030903
- 1 of 2 reported patients
- HemianopiaHPOHP:0012377
- 1 of 2 reported patients
- LeukoencephalopathyHPOHP:0002352
- 1 of 2 reported patients
- Personality changesHPOHP:0000751
- 1 of 2 reported patients
- Sensory ataxiaHPOHP:0010871
- 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.
- AARS1HGNC:20
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: leukoencephalopathy, hereditary diffuse, with spheroids 2
- Also called
- HDLS2leukoencephalopathy, hereditary diffuse, with spheroids, swedish IIA