autosomal dominant complex spastic paraplegia type 9B
MONDO:0018644Mondo
Findings
No curated finding names autosomal dominant complex spastic paraplegia type 9B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
21 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.
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Hyperactive patellar reflexHPOHP:0007083
- Frequent (30% to 79% of cases)
- Loss of ambulationHPOHP:0002505
- Frequent (30% to 79% of cases)
- Motor polyneuropathyHPOHP:0007178
- Frequent (30% to 79% of cases)
- Pes cavusHPOHP:0001761
- Frequent (30% to 79% of cases)
- Postural tremorHPOHP:0002174
- Frequent (30% to 79% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Frequent (30% to 79% of cases)
- Progressive neurologic deteriorationHPOHP:0002344
- Frequent (30% to 79% of cases)
- Spastic dysarthriaHPOHP:0002464
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
- Upper limb hyperreflexiaHPOHP:0007350
- Frequent (30% to 79% of cases)
- Upper motor neuron dysfunctionHPOHP:0002493
- Frequent (30% to 79% of cases)
Show the remaining 9
- Absent Achilles reflexHPOHP:0003438
- Occasional (5% to 29% of cases)
- Atrophy of the spinal cordHPOHP:0006827
- Occasional (5% to 29% of cases)
- DementiaHPOHP:0000726
- Occasional (5% to 29% of cases)
- Developmental cataractHPOHP:0000519
- Occasional (5% to 29% of cases)
- Elbow flexion contractureHPOHP:0002987
- Occasional (5% to 29% of cases)
- Focal dystoniaHPOHP:0004373
- Occasional (5% to 29% 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.
- ALDH18A1HGNC:9722
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: autosomal dominant complex spastic paraplegia type 9B
- Also called
- AD-SPG9B