spastic paraplegia 72b, autosomal recessive
MONDO:0957958Mondo
Findings
No curated finding names spastic paraplegia 72b, 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
- Childhood onset
HPO, annotations 2026-09-02
Features
8 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
- 4 of 4 reported patients
- Difficulty runningHPOHP:0009046
- 2 of 2 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 4 of 4 reported patients
- Spastic gaitHPOHP:0002064
- 4 of 4 reported patients
- SpasticityHPOHP:0001257
- 4 of 4 reported patients
- Gait disturbanceHPOHP:0001288
- 2 of 4 reported patients
- DysarthriaHPOHP:0001260
- 0 of 4 reported patients
- Gait ataxiaHPOHP:0002066
- 0 of 4 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.
- REEP2HGNC:17975
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of