spastic paraplegia 30B, autosomal recessive
MONDO:0971149Mondo
Findings
No curated finding names spastic paraplegia 30B, 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
22 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
- 14 of 14 reported patients
- Difficulty runningHPOHP:0009046
- 3 of 3 reported patients
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients
- Leg muscle stiffnessHPOHP:0008969
- 3 of 3 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 14 of 14 reported patients
- Lower limb spasticityHPOHP:0002061
- 3 of 3 reported patients
- SpasticityHPOHP:0001257
- 11 of 11 reported patients
- Distal amyotrophyHPOHP:0003693
- 9 of 11 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 9 of 11 reported patients
- Impaired pain sensationHPOHP:0007328
- 9 of 11 reported patients
- Muscle weaknessHPOHP:0001324
- 9 of 11 reported patients
- Ankle clonusHPOHP:0011448
- 2 of 3 reported patients
Show the remaining 10
- Sensorimotor neuropathyHPOHP:0007141
- 2 of 4 reported patients
- Distal peripheral sensory neuropathyHPOHP:0007067
- 1 of 3 reported patients
- Scissor gaitHPOHP:0012407
- 1 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 4 reported patients
- DysmetriaHPOHP:0001310
- 3 of 13 reported patients
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- 3 of 14 reported patients