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Human Disease

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
Ontology
Human Disease   ( DOID:0070460 )
Relationships
is a type of
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Genes Involved
Zebrafish Models