hereditary spastic paraplegia 78

Term ID

DOID:0112348

Synonyms

• spastic paraplegia 78 autosomal recessive
• SPG78

Definition

A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. https://pubmed.ncbi.nlm.nih.gov/28137957/

References

• OMIM:617225
• ORDO:513436

Ontology

Human Disease   ( DOID:0112348 )