hereditary spastic paraplegia 15
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
Kjellin syndrome
exact
SPG15
exact
ZFYVE26 autosomal recessive complex spastic paraplegia
exact
autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26
exact
autosomal recessive spastic paraplegia type 15
exact
hereditary spastic paraparesis type 15
exact
hereditary spastic paraplegia 15
exact
hereditary spastic paraplegia type 15
exact
recessive spastic paraplegia with retinal degeneration
related
spastic paraplegia 15
related
spastic paraplegia 15, autosomal recessive
related
spastic paraplegia and retinal degeneration
exact
spastic paraplegia-retinal degeneration syndrome
exact