hereditary spastic paraplegia 51
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.
MONDO:0019064
hereditary spastic paraplegia
is_a
MONDO:0100176
AP-4 deficiency syndrome
is_a
AP4E1 hereditary spastic paraplegia
exact
SPG51
exact
Spastic Paraplegia 51
exact
cerebral palsy, spastic quadriplegic, 4
related
hereditary spastic paraplegia caused by mutation in AP4E1
exact
hereditary spastic paraplegia type 51
exact
spastic paraplegia 51, autosomal recessive
related