spastic paraplegia 92, autosomal recessive
MONDO:0975746Mondo
Findings
No curated finding names spastic paraplegia 92, 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 · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
33 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.
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Impaired distal vibration sensationHPOHP:0006886
- 3 of 3 reported patients
- Intention tremorHPOHP:0002080
- 1 of 1 reported patient
- Limb ataxiaHPOHP:0002070
- 1 of 1 reported patient
- Lower limb muscle weaknessHPOHP:0007340
- 5 of 5 reported patients
- Memory impairmentHPOHP:0002354
- 1 of 1 reported patient
- Peripheral neuropathyHPOHP:0009830
- 4 of 4 reported patients
- Postural tremorHPOHP:0002174
- 1 of 1 reported patient
- Spastic paraparesisHPOHP:0002313
- 5 of 5 reported patients
- Babinski signHPOHP:0003487
- 4 of 5 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 4 of 5 reported patients
- Urinary urgencyHPOHP:0000012
- 3 of 5 reported patients
Show the remaining 21
- Cognitive impairmentHPOHP:0100543
- 2 of 4 reported patients
- DepressionHPOHP:0000716
- 2 of 5 reported patients
- Distal amyotrophyHPOHP:0003693
- 2 of 5 reported patients
- Head tremorHPOHP:0002346
- 2 of 5 reported patients
- Loss of ambulationHPOHP:0002505
- 2 of 5 reported patients
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- 2 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.
- FICDHGNC:18416
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of