| Metadata | |
|---|---|
| ID | DOID:0112347 |
| Name | hereditary spastic paraplegia 84 |
| 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/ |
| Xrefs | |
| Synonyms |
spastic paraplegia 84 autosomal recessive [EXACT] SPG84 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |