hereditary spastic paraplegia 18
A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
ERLIN2 autosomal recessive complex spastic paraplegia
exact
SPG18
exact
autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2
exact
autosomal recessive spastic paraplegia 18
exact
autosomal recessive spastic paraplegia type 18
exact
hereditary spastic paraplegia type 18
exact
intellectual disability, motor dysfunction and joint contractures
exact
spastic paraplegia 18
related
spastic paraplegia 18, autosomal recessive
related