hereditary spastic paraplegia 61
A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
ARL6IP1 autosomal recessive complex spastic paraplegia
exact
SPG61
exact
autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1
exact
autosomal recessive spastic paraplegia type 61
exact
hereditary spastic paraplegia 61
exact
hereditary spastic paraplegia type 61
exact
spastic paraplegia 61, autosomal recessive
related