hereditary spastic paraplegia 90A

Term ID

DOID:0070459

Synonyms

autosomal dominant spastic paraplegia 90A
SPG90A

Definition

A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. https://pubmed.ncbi.nlm.nih.gov/36718090/

References

MIM:620416

Ontology

Human Disease ( DOID:0070459 )

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