hereditary spastic paraplegia 83

Term ID

DOID:0112346

Synonyms

spastic paraplegia 83 autosomal recessive
SPG83

Definition

A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/32707086/

References

MIM:619027

Ontology

Human Disease ( DOID:0112346 )

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