Metadata | |
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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 | |
Synonyms |
autosomal recessive spastic paraplegia 70 [EXACT] SPG70 [EXACT] |
Parent Relationships |