autosomal recessive spastic paraplegia type 59
MONDO:0018416Mondo
Findings
No curated finding names autosomal recessive spastic paraplegia type 59 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
9 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.
- Spastic paraplegiaHPOHP:0001258
- Very frequent (80% to 99% of cases)
- ClonusHPOHP:0002169
- Frequent (30% to 79% of cases)
- Limb hypertoniaHPOHP:0002509
- Frequent (30% to 79% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
Reported absent (2)
- Abnormal cerebellum morphologyHPOHP:0001317
- Abnormal cerebral white matter morphologyHPOHP:0002500
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.
- USP8HGNC:12631
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: autosomal recessive spastic paraplegia type 59
- Also called
- SPG59