Dravet syndrome is a rare and catastrophic form of epilepsy that begins in infancy or early childhood. It is characterized by prolonged and recurrent...
Smith Lemli Opitz Syndrome is an autosomal recessive disorder that causes multiple congenital anomalies due to defective cholesterol metabolism. This syndrome restricts the growth...
What is Prader-Willi Syndrome?
Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder affecting the metabolic, endocrine, and neurologic systems due to abnormalities on chromosome...
What is Zellweger Syndrome?
Zellweger syndrome is a rare genetic disorder that disrupts cellular function and usually appears soon after birth. Named after Dr. Hans...