hereditary spastic paraplegia 90B

Term ID

DOID:0070460

Synonyms

autosomal recessive spastic paraplegia 90B
SPG90B

Definition

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

References

MIM:620417

Ontology

Human Disease ( DOID:0070460 )

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