OBO ID: DOID:0112343
Term Name: hereditary spastic paraplegia 82 Search Ontology:
Synonyms:
  • spastic paraplegia 82 autosomal recessive
  • SPG82
Definition: A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in PCYT2 on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/31637422/
References:
Ontology: Human Disease   (DOID:0112343)
OTHER hereditary spastic paraplegia 82 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PCYT2 Spastic paraplegia 82, autosomal recessive 618770
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None