Congenital myasthenic syndrome 2C is a neuromuscular junction disorder characterized by early-onset muscle weakness. It is caused by compound heterozy...

Congenital myasthenic syndrome 3A is a neuromuscular disorder that primarily affects the transmission of nerve signals at the muscle due to defects at...

Congenital myasthenic syndrome 3B is a neuromuscular disorder that primarily affects the function of the muscle-endplate, leading to early onset progr...

Congenital myasthenic syndrome 3C is a neuromuscular disorder that presents in early life with muscle weakness and impaired neuromuscular transmission...

Congenital myasthenic syndrome 4 is a neuromuscular condition characterized primarily by issues at the junction between nerves and muscles, leading to...

Congenital myasthenic syndrome 4A is a neuromuscular disorder that results from defects at the postsynaptic neuromuscular junction. It is caused by pa...

Congenital myasthenic syndrome 4B is a neuromuscular disorder that affects the transmission of signals at the neuromuscular junction, leading to early...

Congenital myasthenic syndrome 4C is a neuromuscular disorder characterized by early-onset muscle weakness caused by defects at the postsynaptic neuro...

Congenital myasthenic syndrome 5 is a disorder of neuromuscular transmission that typically presents in infancy with symptoms such as fatigable weakne...

Congenital myasthenic syndrome 6 is a neuromuscular disorder that affects the connection between nerves and muscles. It is caused by mutations in the...

Congenital myasthenic syndrome 7 is a disorder affecting the neuromuscular junction caused by mutations in the SYT2 gene. This condition leads to impa...

Congenital myasthenic syndrome 8 is a neuromuscular disorder characterized by impaired transmission at the neuromuscular junction. The condition is ca...

Congenital myasthenic syndrome 9 is a neuromuscular disorder caused by mutations in the MUSK gene. It typically presents early in life with prominent...

Congenital myasthenic syndrome with tubular aggregates is a condition affecting the neuromuscular junction and muscle fibers, where tubular aggregates...

Congenital myopathy is a group of muscle disorders characterized by muscle weakness and hypotonia that present at birth or in early infancy. Variants...

Congenital myopathy 10b, mild variant is a muscle disorder that primarily affects skeletal muscle function, leading to symptoms such as muscle weaknes...

Congenital myopathy 11 is a neuromuscular disorder that primarily affects muscle strength and motor development. The disorder is caused by pathogenic...

Congenital myopathy 15 is a disorder that primarily affects the skeletal muscles, presenting with muscle weakness and involvement of facial musculatur...

Congenital myopathy 18 is a muscle disorder that primarily affects skeletal muscle function, leading to issues with muscle strength and motor developm...

Congenital myopathy 20 is a muscle disorder that primarily affects skeletal muscle function with lifelong muscle weakness and characteristic structura...