hereditary spastic paraplegia 45
Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
NT5C2 autosomal recessive complex spastic paraplegia
exact
SPG45
exact
SPG65
exact
autosomal recessive complex spastic paraplegia caused by mutation in NT5C2
exact
autosomal recessive spastic paraplegia type 45
exact
autosomal recessive spastic paraplegia type 65
exact
hereditary spastic paraplegia type 45
exact
spastic paraplegia 45, autosomal recessive
related