autosomal recessive spastic paraplegia type 69
MONDO:0018421Mondo
Findings
No curated finding names autosomal recessive spastic paraplegia type 69 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
13 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.
- Abnormal myelinationHPOHP:0012447
- Frequent (30% to 79% of cases)
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebellar vermisHPOHP:0006817
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hand tremorHPOHP:0002378
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- 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)
- Progressive spastic paraplegiaHPOHP:0007020
- Frequent (30% to 79% of cases)
Show the remaining 1
- Spastic dysarthriaHPOHP:0002464
- 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.
- RAB3GAP2HGNC:17168
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: autosomal recessive spastic paraplegia type 69
- Also called
- SPG69