Hereditary spastic paraplegia 51

Definition

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.

Also known as AP4E1 hereditary spastic paraplegia, hereditary spastic paraplegia caused by mutation in AP4E1, hereditary spastic paraplegia type 51, Spastic Paraplegia 51, SPG51 — per MONDO

Also identified as

• DOID 0110803 per MONDO
• OMIM 613744 per MONDO
• UMLS C3151056 per MONDO