Congenital muscular dystrophy with cataracts and intellectual disability is an inherited condition affecting the muscles, eyes, and cognitive developm...

Congenital muscular dystrophy with hyperlaxity (CMDH) is a very rare neuromuscular condition that affects muscle tone and joint stability from birth....

Congenital muscular dystrophy with intellectual disability is a multi-system condition that primarily affects muscle strength and cognitive developmen...

Congenital muscular dystrophy with intellectual disability and severe epilepsy is a multisystem condition that primarily affects both the muscles and...

Congenital muscular dystrophy without intellectual disability is a condition that affects the muscles and motor development from birth or early infanc...

Congenital myasthenic syndrome (CMS) is a group of genetic disorders characterized by impaired neuromuscular transmission at the motor endplate, resul...

Congenital myasthenic syndrome 10 is an inherited neuromuscular condition that primarily affects the communication between nerves and muscles, leading...

Congenital myasthenic syndrome 11 is a disorder affecting neuromuscular transmission that results from mutations in the RAPSN gene. It typically prese...

Congenital myasthenic syndrome 12 is a neuromuscular disorder that arises from a defect in protein glycosylation due to mutations in the GFPT1 gene. T...

Congenital myasthenic syndrome 13 is a disorder affecting the neuromuscular junction that leads to impaired muscle function and weakness. It is caused...

Congenital myasthenic syndrome 14 is a neuromuscular disorder characterized by impaired muscle transmission due to a glycosylation defect. This condit...

Congenital myasthenic syndrome 15 is a condition that affects the neuromuscular junction, leading to muscle weakness and fatigability. It arises from...

Congenital myasthenic syndrome 16 is a neuromuscular disorder caused by mutations in the SCN4A gene. It affects the communication between nerves and m...

Congenital myasthenic syndrome 17 is a neuromuscular disorder caused by mutations in the LRP4 gene that affect the communication between nerves and mu...

Congenital myasthenic syndrome 18 is a condition that affects the function of the muscles due to a genetic mutation. This condition is one type of con...

Congenital myasthenic syndrome 19 is a neuromuscular disorder present from birth that impairs muscle strength and function. It is caused by pathogenic...

Congenital myasthenic syndrome 1A is a neuromuscular condition caused by pathogenic variants in the CHRNA1 gene that affect the communication at the n...

Congenital myasthenic syndrome 20 is a disorder affecting the neuromuscular junction that leads to muscle weakness and challenges with movement. It is...

Congenital myasthenic syndrome 21 is a neuromuscular condition present from birth that primarily affects muscle strength and eye movement. The disorde...

Congenital myasthenic syndrome 2A is an inherited neuromuscular disorder that affects the communication at the neuromuscular junction. It is caused by...