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

• OMIM:618770

Ontology

Human Disease   ( DOID:0112343 )