hereditary spastic paraplegia 83

Term ID

DOID:0112346

Synonyms

• spastic paraplegia 83 autosomal recessive
• SPG83

Definition

A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/32707086/

References

• OMIM:619027

Ontology

Human Disease   ( DOID:0112346 )