leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
MONDO:0700295Mondo
Findings
No curated finding names leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Adult 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.
- AtaxiaHPOHP:0001251
- 5 of 5 reported patients
- Autonomic bladder dysfunctionHPOHP:0005341
- 6 of 6 reported patients
- LeukodystrophyHPOHP:0002415
- 6 of 6 reported patients
- Autonomic erectile dysfunctionHPOHP:0008652
- 3 of 4 reported patients
- ConstipationHPOHP:0002019
- 4 of 6 reported patients
- Orthostatic hypotension due to autonomic dysfunctionHPOHP:0004926
- 3 of 6 reported patients
- Bowel incontinenceHPOHP:0002607
- 1 of 6 reported patients
- ImpotenceHPOHP:0000802
- Male
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.
- LMNB1HGNC:6637
- Strong · PanelApp Australia · Autosomal dominant · 2025