hereditary spastic paraplegia 64
Findings
No curated finding names hereditary spastic paraplegia 64 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
Definition from the Mondo Disease Ontology (MONDO:0014303), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Spastic paraplegiaHPOHP:0001258
- 4 of 4 reported patients
- SpasticityHPOHP:0001257
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- Borderline intellectual disabilityHPOHP:0006889
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% 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.
- ENTPD1HGNC:3363
- Definitive · Baylor College of Medicine Research Center · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Illumina · Autosomal recessive · 2020
- Limited · Illumina · Autosomal recessive · 2020
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 64
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1autosomal recessive spastic paraplegia type 64ENTPD1 autosomal recessive complex spastic paraplegiahereditary spastic paraplegia type 64SPG64