Term Name: | hereditary spastic paraplegia 70 |
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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 ) |