Disease association ontology term - MONDO:0014018 - hereditary spastic paraplegia 54
Term summary
- ID
- MONDO:0014018
- Name
- hereditary spastic paraplegia 54
- Ontology or CV name
- Disease association
- 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.
