Congenital short bowel syndrome is a rare intestinal disorder affecting neonates, characterized by a markedly shortened small bowel of less than 75 cm...

Congenital short bowel syndrome, autosomal recessive, is a condition affecting the gastrointestinal system that is characterized by a significantly sh...

Congenital shoulder dislocation is a condition affecting the shoulder joint that is present at birth. Although the precise genetic basis remains under...

Congenital sialidosis type 2 is a condition that is present from birth and may affect multiple body systems. Although detailed diagnostic features are...

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome is a multisystem disorder characterized by severe...

Congenital smooth muscle hamartoma is a benign skin lesion that typically presents as a localized area of disorganized smooth muscle fibers in the ski...

Congenital sodium diarrhea is a gastrointestinal disorder marked by severe watery diarrhea with high sodium content, leading to hyponatremia and metab...

Congenital stationary night blindness (CSNB) is a visual disorder characterized by difficulties seeing in low light conditions, known as nyctalopia. I...

Congenital stationary night blindness 1A is a non-progressive condition that affects the ability to see in low-light conditions. It is caused by varia...

Congenital stationary night blindness 1B is a non-progressive visual disorder that primarily affects the ability to see in low-light conditions. The c...

Congenital stationary night blindness 1C is a non-progressive vision disorder characterized by difficulties in seeing in low-light conditions and redu...

Congenital stationary night blindness 1D is an inherited condition that primarily affects the eyes and impairs the ability to see in low-light conditi...

Congenital stationary night blindness 1E is an inherited retinal condition that primarily affects night vision from birth. It is caused by mutations i...

Congenital stationary night blindness 1F is a non-progressive retinal condition that primarily affects the ability to see in low light. It is caused b...

Congenital stationary night blindness 1G is an inherited disorder affecting the retina, characterized primarily by difficulties with night vision and...

Congenital stationary night blindness 1H is a vision disorder that primarily affects the ability to see in low-light conditions from birth. It is caus...

Congenital stationary night blindness 2A is a visual disorder caused by a mutation in the CACNA1F gene. This condition primarily affects the retinal f...

Congenital stationary night blindness autosomal dominant 1 is a non-progressive eye condition characterized by difficulty seeing in low-light environm...

Congenital stationary night blindness autosomal dominant 2 is an inherited eye condition marked by difficulties seeing in low light and moderate nears...

Congenital stationary night blindness autosomal dominant 3 is a non-progressive vision disorder that primarily affects the ability to see in low-light...