autosomal recessive spastic paraplegia type 67
Findings
No curated finding names autosomal recessive spastic paraplegia type 67 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0018419), read 2026-09-29. CC BY 4.0.
Features
15 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)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- Gait disturbance
Show the remaining 3
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- 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.
- PGAP1HGNC:25712
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: autosomal recessive spastic paraplegia type 67
- Also called
- SPG67