hereditary spastic paraplegia 53
A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
SPG53
exact
VPS37A autosomal recessive complex spastic paraplegia
exact
autosomal recessive complex spastic paraplegia caused by mutation in VPS37A
exact
autosomal recessive spastic paraplegia type 53
exact
hereditary spastic paraplegia 53
exact
hereditary spastic paraplegia type 53
exact
spastic paraplegia 53, autosomal recessive
related