severe congenital nemaline myopathy
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016193
neuromuscular disease caused by qualitative or quantitative defects of alpha-actin
is_a
MONDO:0016194
neuromuscular disease caused by qualitative or quantitative defects of nebulin
is_a
MONDO:0018958
nemaline myopathy
is_a
MONDO:0100545
hereditary neurological disease
is_a
severe congenital (neonatal) NM
related
SPBC32H8.12c SPAC9G1.06c