Term Name: hereditary spastic paraplegia 82
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 )

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