Visualize Submit Comment
Metadata
ID DOID:0112343
Name hereditary spastic paraplegia 82
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/
Xrefs

MIM:618770

Synonyms

spastic paraplegia 82 autosomal recessive [EXACT]

SPG82 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

Add an item to the term tracker