Term Name: hereditary spastic paraplegia 70
Synonyms: autosomal recessive spastic paraplegia 70, SPG70
Definition: A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3.
Ontology: Human Disease [DOID:0070454]   ( DOID:0070454 )

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