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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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models