hereditary spastic paraplegia 84

Term ID

DOID:0112347

Synonyms

• spastic paraplegia 84 autosomal recessive
• SPG84

Definition

A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. https://pubmed.ncbi.nlm.nih.gov/34415322/

References

• OMIM:619621

Ontology

Human Disease   ( DOID:0112347 )