Term Name: | hereditary spastic paraplegia 82 |
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Synonyms: | spastic paraplegia 82 autosomal recessive, SPG82 |
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. |
Ontology: | Human Disease [DOID:0112343] ( DOID:0112343 ) |