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Human Disease
hereditary spastic paraplegia 70
- Term ID
- DOID:0070454
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/34585293/
- References
- Ontology
- Human Disease ( DOID:0070454 )
- is a type of
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