spastic paraplegia 18a, autosomal dominant
MONDO:0957788Mondo
Findings
No curated finding names spastic paraplegia 18a, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
14 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 disturbanceHPOHP:0001288
- 5 of 5 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 5 of 5 reported patients
- Lower limb spasticityHPOHP:0002061
- 5 of 5 reported patients
- Ankle clonusHPOHP:0011448
- 4 of 5 reported patients
- Babinski signHPOHP:0003487
- 2 of 5 reported patients
- Loss of ambulationHPOHP:0002505
- 2 of 5 reported patients · Late onset
- Abnormal foot morphologyHPOHP:0001760
- 1 of 5 reported patients
- ParesthesiaHPOHP:0003401
- 1 of 5 reported patients
- ScoliosisHPOHP:0002650
- 1 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 5 reported patients
- SeizureHPOHP:0001250
- 0 of 5 reported patients
- Upper limb muscle weaknessHPOHP:0003484
- 0 of 5 reported patients
Show the remaining 2
- Upper limb spasticityHPOHP:0006986
- 0 of 5 reported patients
- Urinary incontinenceHPOHP:0000020
- 0 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.
- ERLIN2HGNC:1356
- Strong · PanelApp Australia · Autosomal dominant · 2025