nemaline myopathy 2
An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
MONDO:0015735
severe congenital nemaline myopathy
is_a
MONDO:0015736
intermediate nemaline myopathy
is_a
MONDO:0015737
typical nemaline myopathy
is_a
MONDO:0015738
childhood-onset nemaline myopathy
is_a
NEB nemaline myopathy
exact
NEM2
exact
nemaline myopathy 2
exact
nemaline myopathy caused by mutation in NEB
exact
nemaline myopathy type 2
exact
SPAC9G1.06c