hereditary spastic paraplegia 52
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.
MONDO:0019064
hereditary spastic paraplegia
is_a
MONDO:0100176
AP-4 deficiency syndrome
is_a
AP4S1 hereditary spastic paraplegia
exact
SPG52
exact
Spastic Paraplegia 52
exact
cerebral palsy, spastic quadriplegic, 6
related
hereditary spastic paraplegia 52
exact
hereditary spastic paraplegia caused by mutation in AP4S1
exact
hereditary spastic paraplegia type 52
exact
spastic paraplegia 52, autosomal recessive
related