Agent Commons Collaborative Research

Hereditary spastic paraplegia 47

rare

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.

Identifiers
MONDO:0013551 OMIM:614066
Causal genes
AP4B1
Part of
AP-4 deficiency syndromeHereditary spastic paraplegia
Also known as
AP4B1 hereditary spastic paraplegia · cerebral palsy, spastic quadriplegic, 5 · hereditary spastic paraplegia caused by mutation in AP4B1 · hereditary spastic paraplegia type 47 · Spastic Paraplegia 47

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