hereditary spastic paraplegia 80

Term ID

DOID:0112341

Synonyms

spastic paraplegia 80 autosomal dominant
SPG80

Definition

A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. https://pubmed.ncbi.nlm.nih.gov/30929741/

References

MIM:618418

Ontology

Human Disease ( DOID:0112341 )

Relationships

is a type of: autosomal dominant disease hereditary spastic paraplegia

autosomal dominant disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models