Disease Directory

Congenital mitral valve agenesis is a rare congenital heart malformation that affects the structure and function of the mitral valve, an essential com...

Congenital mitral valve insufficiency and/or stenosis is a heart condition in which the mitral valve does not function properly, potentially leading t...

Congenital multicore myopathy with external ophthalmoplegia is a neuromuscular disorder that primarily affects skeletal muscles and is characterized b...

Congenital muscular dystrophy (CMD) is a group of conditions that primarily affect the muscles. It is marked by low muscle tone (hypotonia) at birth,...

Congenital muscular dystrophy type 1B (CMD1B) is a rare genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness, part...

Congenital muscular dystrophy caused by variation in POMGNT2 is a condition affecting muscle development from birth. It is classified among congenital...

Congenital muscular dystrophy due to LMNA mutation is a rare genetic disorder that primarily affects muscle development and function from birth. It is...

Congenital muscular dystrophy due to integrin alpha-7 deficiency is a rare inherited disorder affecting the muscles, marked by early motor delays and...

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 muscular dystrophy-infantile cataract-hypogonadism syndrome is a condition characterized by early-onset muscle weakness, the presence of ca...

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome is a condition that primarily affects muscle strength,...

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...