hereditary spastic paraplegia 62
Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
MONDO:0015149
pure hereditary spastic paraplegia
is_a
ERLIN1 autosomal recessive pure spastic paraplegia
exact
SPG62
exact
autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1
exact
autosomal recessive spastic paraplegia type 62
exact
hereditary spastic paraplegia type 62
exact
spastic paraplegia 62, autosomal recessive
exact