Term Name: hereditary spastic paraplegia 78
Synonyms: spastic paraplegia 78 autosomal recessive, SPG78
Definition: A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.
Ontology: Human Disease [DOID:0112348]   ( DOID:0112348 )

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