leukoencephalopathy with mild cerebellar ataxia and white matter edema
MONDO:0014292Mondo
Findings
No curated finding names leukoencephalopathy with mild cerebellar ataxia and white matter edema yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Childhood onset · Late young adult onset
HPO, annotations 2026-09-02
Features
10 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.
- Limb ataxiaHPOHP:0002070
- 6 of 6 reported patients
- Visual field defectHPOHP:0001123
- 4 of 6 reported patients
- HeadacheHPOHP:0002315
- 3 of 6 reported patients
- Action tremorHPOHP:0002345
- 2 of 6 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 6 reported patients
- Optic neuropathyHPOHP:0001138
- 2 of 6 reported patients
- Chorioretinal atrophyHPOHP:0000533
- 1 of 6 reported patients
- Choroidal neovascularizationHPOHP:0011506
- 1 of 6 reported patients
- RetinoschisisHPOHP:0030502
- 1 of 6 reported patients
- LeukoencephalopathyHPOHP:0002352
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.
- CLCN2HGNC:2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of