Term Name: hereditary spastic paraplegia 83
Synonyms: spastic paraplegia 83 autosomal recessive, SPG83
Definition: A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1.
Ontology: Human Disease [DOID:0112346]   ( DOID:0112346 )

Relationships
is a type of: autosomal recessive disease hereditary spastic paraplegia