non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
MONDO:0018576Mondo
Findings
No curated finding names non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
38 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.
- Progressive leukoencephalopathyHPOHP:0006980
- Very frequent (80% to 99% of cases)
- Progressive peripheral neuropathyHPOHP:0007133
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- AminoaciduriaHPOHP:0003355
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Frequent (30% to 79% of cases)
- Decreased liver functionHPOHP:0001410
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Diffuse hepatic steatosisHPOHP:0006555
- Frequent (30% to 79% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Frequent (30% to 79% of cases)
Show the remaining 26
- Exertional dyspneaHPOHP:0002875
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Fatigable weakness of swallowing musclesHPOHP:0030195
- Frequent (30% to 79% of cases)
- Fatty replacement of skeletal muscleHPOHP:0012548
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
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.
- COA8HGNC:20492
- Supportive · Orphanet · Autosomal recessive · 2021