hereditary spastic paraplegia 50
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.
MONDO:0019064
hereditary spastic paraplegia
is_a
MONDO:0100176
AP-4 deficiency syndrome
is_a
AP4M1 hereditary spastic paraplegia
exact
SPG50
exact
Spastic Paraplegia 50
exact
cerebral palsy, spastic quadriplegic, 3
related
hereditary spastic paraplegia caused by mutation in AP4M1
exact
hereditary spastic paraplegia type 50
exact
spastic paraplegia 50, autosomal recessive
related