OBO ID: DOID:0110802
Term Name: hereditary spastic paraplegia 50 Search Ontology:
Synonyms:
  • adaptor protein complex 4 deficiency
  • AP-4 deficiency syndrome
  • AP-4-Associated Hereditary Spastic Paraplegia
  • autosomal recessive spastic paraplegia 50
  • CPSQ3
  • spastic quadriplegic cerebral palsy 3
  • SPG50
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. (2)
References:
Ontology: Human Disease   (DOID:0110802)
OTHER hereditary spastic paraplegia 50 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AP4M1 Spastic paraplegia 50, autosomal recessive 612936
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None