congenital myasthenic syndrome
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
MONDO:0020260
obsolete myasthenic syndrome with eye involvement (obsolete MONDO:0020260)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0020124
neuromuscular junction disease
is_a
MONDO:0100546
hereditary neuromuscular disease
is_a
CMS
exact
Congenital Myasthenic Syndromes
exact
congenital MG
related
congenital myasthenia
related
erb-Goldflam syndrome
related
myasthenia gravis congenital
related
myasthenia gravis pseudoparalytica
related
myasthenic syndrome, congenital
exact
SPBC12C2.11 SPBC15D4.04 SPBC11B10.01 SPAC19G12.05 SPAC5D6.06c SPBC26H8.02c