autosomal recessive spastic paraplegia type 60
MONDO:0018417Mondo
Findings
No curated finding names autosomal recessive spastic paraplegia type 60 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.
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- Frequent (30% to 79% of cases)
- Limb hypertoniaHPOHP:0002509
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Motor axonal neuropathyHPOHP:0007002
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
- Spastic paraplegiaHPOHP:0001258
- 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.
- WDR48HGNC:30914
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: autosomal recessive spastic paraplegia type 60
- Also called
- SPG60