hereditary spastic paraplegia 30
Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
MONDO:0019064
hereditary spastic paraplegia
is_a
MONDO:0700055
KIF1A related neurological disorder
is_a
KIF1A hereditary spastic paraplegia
exact
SPG30
exact
autosomal spastic paraplegia type 30
exact
hereditary spastic paraplegia caused by mutation in KIF1A
exact
hereditary spastic paraplegia type 30
exact
spastic paraplegia 30, autosomal dominant
exact
SPAC144.14