hereditary spastic paraplegia 18
Findings
No curated finding names hereditary spastic paraplegia 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.
Definition from the Mondo Disease Ontology (MONDO:0012639), read 2026-09-29. CC BY 4.0.
Features
34 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.
- Ankle flexion contractureHPOHP:0006466
- Very frequent (80% to 99% of cases)
- Bilateral wrist flexion contractureHPOHP:0012453
- Very frequent (80% to 99% of cases)
- Distal muscle weaknessHPOHP:0002460
- Very frequent (80% to 99% of cases)
- Elbow flexion contractureHPOHP:0002987
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Show the remaining 22
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- MacroglossiaHPOHP:0000158
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Wide mouthHPOHP:0000154
- Frequent (30% to 79% of cases)
- Abnormal lumbar spine morphologyHPOHP:0100712
- 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.
- ERLIN2HGNC:1356
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: hereditary spastic paraplegia 18
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2autosomal recessive spastic paraplegia 18autosomal recessive spastic paraplegia type 18ERLIN2 autosomal recessive complex spastic paraplegiahereditary spastic paraplegia type 18intellectual disability, motor dysfunction and joint contracturesSPG18