spastic paraplegia 85, autosomal recessive
MONDO:0030512Mondo
Findings
No curated finding names spastic paraplegia 85, 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
20 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.
- Brisk reflexesHPOHP:0001348
- 9 of 9 reported patients
- Lower limb spasticityHPOHP:0002061
- 9 of 9 reported patients
- Optic atrophyHPOHP:0000648
- 7 of 7 reported patients
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- 4 of 4 reported patients
- Babinski signHPOHP:0003487
- 8 of 9 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 7 of 9 reported patients
- DysarthriaHPOHP:0001260
- 6 of 9 reported patients
- Motor delayHPOHP:0001270
- 5 of 9 reported patients
- Upper limb spasticityHPOHP:0006986
- 4 of 9 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 7 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 2 of 7 reported patients
- DysphagiaHPOHP:0002015
- 2 of 9 reported patients
Show the remaining 8
- Urinary incontinenceHPOHP:0000020
- 2 of 9 reported patients
- Generalized amyotrophyHPOHP:0003700
- 1 of 9 reported patients
- Impaired tactile sensationHPOHP:0010830
- 1 of 9 reported patients
- Impaired temperature sensationHPOHP:0010829
- 1 of 9 reported patients
- Impaired vibratory sensationHPOHP:0002495
- 1 of 9 reported patients
- TorticollisHPOHP:0000473
- 1 of 9 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.
- RNF170HGNC:25358
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: spastic paraplegia 85, autosomal recessive
- Also called
- autosomal recessive spastic paraplegia type 85SPG85