hereditary spastic paraplegia 82 (DOID:0112343)
Alliance: disease page
Synonyms: spastic paraplegia 82 autosomal recessive; SPG82
Alt IDs: OMIM:618770
Definition: A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.