Search Ontology:
Human Disease
hereditary spastic paraplegia 82
- Term ID
- DOID:0112343
- 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 the PCYT2 gene on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/31637422/
- References
- Ontology
- Human Disease ( DOID:0112343 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models