hereditary spastic paraplegia 54
Findings
No curated finding names hereditary spastic paraplegia 54 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.
Definition from the Mondo Disease Ontology (MONDO:0014018), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
28 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.
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- 12 of 12 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
- Periventricular white matter hyperintensitiesHPOHP:0030891
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
- Spastic paraplegiaHPOHP:0001258
- 12 of 12 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.
- DDHD2HGNC:29106
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 54
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in DDHD2autosomal recessive spastic paraplegia type 54DDHD2 autosomal recessive complex spastic paraplegiahereditary spastic paraplegia type 54SPG54