hereditary spastic paraplegia 39
This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
NTE related motor neuron disorder
related
NTE-related motor neuron disorder
exact
NTEMND
exact
PNPLA6 hereditary spastic paraplegia
exact
SPG39
exact
autosomal recessive spastic paraplegia type 39
exact
hereditary spastic paraplegia caused by mutation in PNPLA6
exact
hereditary spastic paraplegia type 39
exact
spastic paraplegia 39
related
spastic paraplegia 39, autosomal recessive
related
spastic paraplegia due to NTE mutation
exact
spastic paraplegia due to neuropathy target esterase mutation
exact
SPCC4B3.04c