hereditary spastic paraplegia 11
Findings
No curated finding names hereditary spastic paraplegia 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.
Definition from the Mondo Disease Ontology (MONDO:0011445), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
53 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
- 21 of 22 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 21 of 22 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 14 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
Show the remaining 41
- Intellectual disabilityHPOHP:0001249
- 15 of 22 reported patients · Late onset
- Abnormality of pattern visual evoked potentialsHPOHP:0030455
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- 3 of 16 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
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.
- SPG11HGNC:11226
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Illumina · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: hereditary spastic paraplegia 11
- Also called
- autosomal recessive spastic paraplegia type 11hereditary spastic paraplegia caused by mutation in SPG11hereditary spastic paraplegia type 11HSP-TCCNakamura-Osame syndromespastic paraplegia-intellectual disability-thin corpus callosum syndromeSPG11SPG11 hereditary spastic paraplegia