hereditary spastic paraplegia 15
Findings
No curated finding names hereditary spastic paraplegia 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
Definition from the Mondo Disease Ontology (MONDO:0010044), read 2026-09-29. CC BY 4.0.
Features
39 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.
- Hypoplasia of the corpus callosumHPOHP:0002079
- Very frequent (80% to 99% of cases)
- Abnormal cerebellum morphologyHPOHP:0001317
- Frequent (30% to 79% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
Show the remaining 27
- Leg muscle stiffnessHPOHP:0008969
- Frequent (30% to 79% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- 4 of 10 reported patients
- Frequent (30% to 79% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- 5 of 9 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.
- ZFYVE26HGNC:20761
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: hereditary spastic paraplegia 15
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26autosomal recessive spastic paraplegia type 15hereditary spastic paraparesis type 15hereditary spastic paraplegia type 15Kjellin syndromespastic paraplegia and retinal degenerationspastic paraplegia-retinal degeneration syndromeSPG15ZFYVE26 autosomal recessive complex spastic paraplegia