How is the disorder diagnosed and treated? Describe methods used to detect or diagnose the disorder. Is there a laboratory assay or test to detect the disorder? How Is It Treated?

One book and One article from PubMed.
Provide a medical description of the disorder. Include a picture of some important aspect of the disorder. What are the symptoms & how soon do they appear? Provide pictures & a written description of symptoms.

Describe the genes involved in this disorder, the pattern of inheritance, frequency, and who is affected by the disorder. Identify the genes involved, the chromosomes they are linked to, how they are inherited and the population frequency in populations.
How is the disorder diagnosed and treated? Describe methods used to detect or diagnose the disorder. Is there a laboratory assay or test to detect the disorder? How Is It Treated? Describe the drugs, therapies or genetic procedures that can be used to treat this disorder.