autosomal recessive spastic paraplegia type 70
Findings
No curated finding names autosomal recessive spastic paraplegia type 70 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0018422), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
30 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.
- Ankle clonusHPOHP:0011448
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Growth delay
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.
- MARS1HGNC:6898
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
Other names
2 names
Resolves to: autosomal recessive spastic paraplegia type 70
- Also called
- spastic paraplegia 70, autosomal recessiveSPG70