spastic paraplegia 83, autosomal recessive
MONDO:0033614Mondo
Findings
No curated finding names spastic paraplegia 83, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive
HPO, annotations 2026-09-02
Features
10 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.
- Lower limb hyperreflexiaHPOHP:0002395
- 5 of 5 reported patients
- Spastic paraplegiaHPOHP:0001258
- 5 of 5 reported patients · Juvenile onset
- Unsteady gaitHPOHP:0002317
- 5 of 5 reported patients · Juvenile onset
- Babinski signHPOHP:0003487
- 3 of 5 reported patients
- Muscle spasmHPOHP:0003394
- 3 of 5 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 5 reported patients
- DysphagiaHPOHP:0002015
- 1 of 5 reported patients
- MyalgiaHPOHP:0003326
- 1 of 5 reported patients
- ParesthesiaHPOHP:0003401
- 1 of 5 reported patients
- Urinary urgencyHPOHP:0000012
- 1 of 5 reported patients
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.
- HPDLHGNC:28242
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: spastic paraplegia 83, autosomal recessive
- Also called
- autosomal recessive spastic paraplegia type 83SPG83