hereditary spastic paraplegia 80

Term ID

DOID:0112341

Synonyms

• spastic paraplegia 80 autosomal dominant
• SPG80

Definition

A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. https://pubmed.ncbi.nlm.nih.gov/30929741/

References

• OMIM:618418

Ontology

Human Disease   ( DOID:0112341 )