OBO ID: DOID:0110804
Term Name: hereditary spastic paraplegia 52 Search Ontology:
Synonyms:
  • autosomal recessive spastic paraplegia 52
  • CPSQ6
  • spastic quadriplegic cerebral palsy 6
  • SPG52
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/21620353
References:
Ontology: Human Disease   (DOID:0110804)
OTHER hereditary spastic paraplegia 52 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AP4S1 Spastic paraplegia 52, autosomal recessive 614067
PHENOTYPE No data available

CITATIONS (1)