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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

MIM:619621

Synonyms

spastic paraplegia 84 autosomal recessive [EXACT]

SPG84 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

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