OBO ID: DOID:0112347
Term Name: hereditary spastic paraplegia 84 Search Ontology:
Synonyms:
  • spastic paraplegia 84 autosomal recessive
  • SPG84
Definition: A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in PI4KA on chromosome 22q11.21. https://pubmed.ncbi.nlm.nih.gov/34415322/
References:
Ontology: Human Disease   (DOID:0112347)
OTHER hereditary spastic paraplegia 84 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PI4KA Spastic paraplegia 84, autosomal recessive 619621
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None