hereditary spastic paraplegia 12
Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
MONDO:0015149
pure hereditary spastic paraplegia
is_a
RTN2 hereditary spastic paraplegia
exact
SPG12
exact
autosomal dominant spastic paraplegia type 12
exact
hereditary spastic paraplegia caused by mutation in RTN2
exact
hereditary spastic paraplegia type 12
exact
spastic paraplegia 12
related
spastic paraplegia 12, autosomal dominant
related
SPBC31A8.01c