Metadata | |
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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 |