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

MIM:619621

Ontology

Human Disease ( DOID:0112347 )

Relationships

is a type of: autosomal recessive disease hereditary spastic paraplegia

autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models