X-linked complicated spastic paraplegia type 1
Findings
No curated finding names X-linked complicated spastic paraplegia type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.
Definition from the Mondo Disease Ontology (MONDO:0017630), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Spastic paraplegiaHPOHP:0001258
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- Upper motor neuron dysfunctionHPOHP:0002493
- Frequent (30% to 79% of cases)
- Adducted thumbHPOHP:0001181
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Mental deteriorationHPOHP:0001268
- Occasional (5% to 29% of cases)
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.
- L1CAMHGNC:6470
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: X-linked complicated spastic paraplegia type 1
- Also called
- SPG1