Spinocerebellar ataxia (SCA) is a genetically inherited disorder characterized by abnormalities in brain functioning...
Niemann-Pick Disease is one of a group of lysosome storage disease that affect the metabolism caused by mutations in the genes...
Fibrodysplasia ossificans progressiva (FOP) is where muscle and connective tissues are slowly replaced by bone referred to as ossification...
Cri du chat is one of the most common syndromes caused by chromosomal deletion affecting between one in twenty-thousand and one in fifty-thousand children...