hereditary spastic paraplegia 47
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.
MONDO:0019064
hereditary spastic paraplegia
is_a
MONDO:0100176
AP-4 deficiency syndrome
is_a
AP4B1 hereditary spastic paraplegia
exact
SPG47
exact
Spastic Paraplegia 47
exact
cerebral palsy, spastic quadriplegic, 5
related
hereditary spastic paraplegia 47
exact
hereditary spastic paraplegia caused by mutation in AP4B1
exact
hereditary spastic paraplegia type 47
exact
spastic paraplegia 47, autosomal recessive
related