Hereditary spastic paraplegia 49

Definition

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.

Also known as autosomal recessive spastic paraplegia type 49, hereditary spastic paraplegia 49, hereditary spastic paraplegia caused by mutation in TECPR2, hereditary spastic paraplegia type 49, neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, SPG49, TECPR2 hereditary spastic paraplegia — per MONDO

Also identified as

• DOID 0110801 per MONDO
• OMIM 615031 per MONDO
• Orphanet 320385 per MONDO
• UMLS C3542549 per MONDO