autosomal recessive spastic paraplegia type 70
A rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
SPG70
exact
autosomal recessive spastic paraplegia type 70
exact
spastic paraplegia 70, autosomal recessive
exact
SPBC17A3.04c