hereditary spastic paraplegia 85

Term ID

DOID:0112345

Synonyms

• spastic paraplegia 85 autosomal recessive
• SPG85

Definition

A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/31636353/

References

• OMIM:619686

Ontology

Human Disease   ( DOID:0112345 )