hereditary spastic paraplegia 79A

Term ID

DOID:0070455

Synonyms

autosomal dominant spastic paraplegia 79A
SPG79A

Definition

A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. https://pubmed.ncbi.nlm.nih.gov/35986737/

References

MIM:620221

Ontology

Human Disease ( DOID:0070455 )

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