Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) is a rare genetic disorder characterized by multiple autoimmune symptoms in organs.
Crohn’s disease is a rare genetic disorder, a well-known type of inflammatory bowel disease. It is usually characterized by inflammation of the digestive system.
Diagnosis story of a man diagnosed with Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
EMPF1 is a rare genetic disorder characterized by delayed psychomotor development and hypotonia.
Long QT syndrome is a rare genetic heart disorder that can cause fast heartbeats, sometimes leading to fainting or seizure.
A diagnosis story of a girl diagnosed with Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Infantile cerebellar-retinal degeneration is one of the rare neurodegenerative disorders affecting the brain and eyes.
Gaucher disease is one of the most well known rare diseases in the group of lysosomal storage disorders.