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

• OMIM:620416

Ontology

Human Disease   ( DOID:0070459 )