spastic paraplegia 18b, autosomal recessive
MONDO:0700309Mondo
Findings
No curated finding names spastic paraplegia 18b, 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
- Infantile onset · Progressive · 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.
- Absent speechHPOHP:0001344
- 11 of 11 reported patients
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Biceps hyperreflexiaHPOHP:0033205
- 4 of 4 reported patients
- Inability to walkHPOHP:0002540
- 11 of 11 reported patients
- Joint contractureHPOHP:0034392
- 11 of 11 reported patients
- Ankle clonusHPOHP:0011448
- 2 of 4 reported patients
- Delayed ability to walkHPOHP:0031936
- Spastic paraplegiaHPOHP:0001258
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 · G2P · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025