neuronopathy, distal hereditary motor, type 5C
Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.
MONDO:0100350
neuronopathy, distal hereditary motor, type 5
is_a
DHMN5C
exact
HMN5C
exact
neuropathy, distal hereditary motor, type VC
exact
spinal muscular atrophy, distal, type 5C
exact
SPAC3A11.04