Azorean Disease Azorean disease causes progressive degeneration of the central nervous system. Affected individuals experience deterioration in muscle coordination and other physical Read More
Giant Axonal Neuropathy Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural Read More
Froelich’s Syndrome? It is possible that the main title of the report Froelich’s Syndrome is not the name you expected. Please check the synonyms listing to Read More
General Discussion Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial (craniofacial) Read More