leukodystrophy, childhood-onset, remitting
MONDO:0859246Mondo
Findings
No curated finding names leukodystrophy, childhood-onset, remitting 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
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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.
- IrritabilityHPOHP:0000737
- 3 of 3 reported patients
- Gait disturbanceHPOHP:0001288
- 2 of 3 reported patients
- LeukodystrophyHPOHP:0002415
- 2 of 3 reported patients
- Tube feedingHPOHP:0033454
- 2 of 3 reported patients
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 1 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 3 reported patients
- Focal-onset seizureHPOHP:0007359
- 1 of 3 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.
- FBP2HGNC:3607
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of