Spastic paraplegia 82, autosomal recessive

Definition

Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.

Also known as autosomal recessive spastic paraplegia type 82, spastic paraplegia 82, autosomal recessive, SPG82 — per MONDO

Also identified as

• DOID 0112343 per MONDO
• OMIM 618770 per MONDO
• Orphanet 631073 per MONDO
• UMLS C5394037 per MONDO