autosomal recessive spastic paraplegia type 66
MONDO:0018418Mondo
Findings
No curated finding names autosomal recessive spastic paraplegia type 66 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
14 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.
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Chronic sensorineural polyneuropathyHPOHP:0001301
- Frequent (30% to 79% of cases)
- ColpocephalyHPOHP:0030048
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Limb hypertoniaHPOHP:0002509
- Frequent (30% to 79% of cases)
- Lower limb amyotrophyHPOHP:0007210
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Frequent (30% to 79% of cases)
Show the remaining 2
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- 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.
- ARSIHGNC:32521
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: autosomal recessive spastic paraplegia type 66
- Also called
- SPG66