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Metadata
ID DOID:0070454
Name hereditary 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.
https://pubmed.ncbi.nlm.nih.gov/34585293/
Xrefs

MIM:620323

Synonyms

autosomal recessive spastic paraplegia 70 [EXACT]

SPG70 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

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