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...

Congenital myopathy 4B, autosomal recessive is a form of congenital muscle disorder that is present from birth and primarily affects muscle function....

Congenital myopathy 7A is a muscle disorder primarily affecting skeletal muscle function and is characterized by muscle weakness and abnormalities det...

Congenital myopathy, Paradas type is an early-onset muscle condition that primarily affects movement from birth. Affected infants often display low mu...

Congenital myopathy with internal nuclei and atypical cores is a genetic skeletal muscle disorder characterized by neonatal hypotonia, distal greater...

Congenital myopathy with myasthenic-like onset is a rare, non-dystrophic myopathy that primarily affects skeletal muscle function. The condition is ch...

Congenital myopathy with reduced type 2 muscle fibers is a disorder affecting skeletal muscles that is present from birth. It is associated with genet...

Congenital myotonic dystrophy is a form of myotonic dystrophy that is present at birth, primarily affecting neuromuscular function. This condition is...

Congenital narrowing of cervical spinal canal is a rare neurological condition defined by a reduced bony diameter of the cervical spinal canal. This s...

Congenital nephrotic syndrome, Finnish type is a kidney disorder that presents at or soon after birth with significant protein loss beginning during f...

Congenital neuronal ceroid lipofuscinosis is a severe neurologic condition that presents at birth with marked neurological impairment. Affected infant...