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hereditary spastic paraplegia 70
Summary
- Synonym
-
- SPG70
- autosomal recessive spastic paraplegia 70
- 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.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0070454
- Mondo Disease Ontology
- OMIM
