hereditary spastic paraplegia 70

Term ID

DOID:0070454

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. https://pubmed.ncbi.nlm.nih.gov/34585293/

References

MIM:620323

Ontology

Human Disease ( DOID:0070454 )

Relationships

is a type of: autosomal recessive disease hereditary spastic paraplegia

autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models