Disease Directory

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...

Congenital myopathy 21 with early respiratory failure is a genetic condition that primarily affects the muscles and respiratory system. It is caused b...

Congenital myopathy 22A, classic is a condition that primarily affects skeletal muscle, leading to generalized muscle weakness and several characteris...

Congenital myopathy 22B, severe fetal is a muscle disorder that presents with significant weakness and abnormal muscle development evident even before...

Congenital myopathy 23 is a neuromuscular condition classified as a form of nemaline myopathy, and it is caused by mutations in the TPM2 gene. It prim...

Congenital myopathy 25 is a muscle disorder that primarily affects skeletal muscle function. It has been linked to genetic changes in the JPH1 gene, w...

Congenital myopathy 26 is a condition affecting the skeletal muscles that typically presents in early life with motor delay and muscle weakness. Indiv...

Congenital myopathy 2a, typical, autosomal dominant is an inherited muscle disorder that primarily affects skeletal muscle function. It is caused by m...

Congenital myopathy 2b, severe infantile, autosomal recessive is a neuromuscular condition that primarily affects skeletal muscle, leading to marked m...

Congenital myopathy 2c, severe infantile, autosomal dominant is a neuromuscular condition that primarily affects infants with early onset of muscle we...

Congenital myopathy 4A, autosomal dominant is a muscle disorder that typically presents from birth with muscle weakness and associated motor challenge...