hereditary spastic paraplegia 54

Term ID

DOID:0110806

Synonyms

• autosomal recessive spastic paraplegia 54
• autosomal recessive spastic paraplegia type 54
• SPG54

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. https://www.ncbi.nlm.nih.gov/pubmed/23176823

References

• ICD10CM:G11.4
• OMIM:615033
• ORDO:320380

Ontology

Human Disease   ( DOID:0110806 )