Hereditary spastic paraplegia 17

Definition

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.

Also known as autosomal dominant spastic paraplegia type 17, BSCL2 hereditary spastic paraplegia, hereditary spastic paraplegia caused by mutation in BSCL2, hereditary spastic paraplegia type 17, Silver spastic paraplegia syndrome, Silver syndrome, spastic paraplegia with amyotrophy of hands and feet, spastic paraplegia-amyotrophy of hands and feet, SPG17 — per MONDO

Also identified as

• DOID 0110770 per MONDO
• MESH C536644 per MONDO
• OMIM 270685 per MONDO
• Orphanet 100998 per MONDO
• UMLS C2931276 per MONDO