Achondroplasia
Achondroplasia and other skeletal dysplasias are a group of rare genetic disorders characterized by abnormal development of bones, joints, or
Rare diseases
Neuroinflammatory Diseases
Neuroinflammatory diseases are a complex group of conditions that occur when the immune system attacks the body’s healthy cells. These
Neuromuscular Diseases
Neuromuscular Diseases are a diverse group of disorders that affect the nervous and muscular systems. These conditions can involve the nerves, muscles,
Genetic Epilepsies
Genetic epilepsies are among the most common forms of epilepsy. They are caused by pathogenic variants in specific genes, which can
Neurofibromatosis Type 1
Neurofibromatosis Type 1 (NF1) is a genetic disorder that primarily affects the skin and nervous system, and it can impact children. It leads
Tuberous sclerosis
Tuberous sclerosis, also known as tuberous sclerosis complex (TSC) or Bourneville disease, is a rare genetic disorder characterized by the formation of benign tumors in various