leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy
MONDO:0979226Mondo
Findings
No curated finding names leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy 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
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
34 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.
- Abnormal corpus callosum morphologyHPOHP:0001273
- 12 of 12 reported patients
- Addictive alcohol useHPOHP:0030955
- 1 of 1 reported patient
- Addictive substance useHPOHP:0033511
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- AphasiaHPOHP:0002381
- 1 of 1 reported patient
- ApraxiaHPOHP:0002186
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 7 of 7 reported patients
- Corpus callosum atrophyHPOHP:0007371
- 3 of 3 reported patients
- DepressionHPOHP:0000716
- 3 of 3 reported patients
- DysesthesiaHPOHP:0012534
- 1 of 1 reported patient
Show the remaining 22
- FatigueHPOHP:0012378
- 2 of 2 reported patients
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- HydrocephalusHPOHP:0000238
- 1 of 1 reported patient
- OsteosarcomaHPOHP:0002669
- 1 of 1 reported patient
- ParkinsonismHPOHP:0001300
- 1 of 1 reported patient
- PruritusHPOHP:0000989
- 1 of 1 reported patient
- Shuffling gait
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.
- CST3HGNC:2475
- Limited · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of