HomeGenetic Disorders Information Center: List of Different types of Genetic Disorders

Genetic Disorders Information Center: List of Different types of Genetic Disorders

Barth Syndrome: Causes, Symptoms, Treatment, Prognosis, Pathophysiology

Barth syndrome (BTHS) is a rare X-linked genetic disorder. It was discovered for the first time in 1979 by Dr. Peter Barth in Netherlands...

What is Acid Lipase Disease or Lysosomal Acid Lipase Deficiency: Types, Causes, Symptoms, Treatment

Digestive system in the human body needs several important enzymes that break down the eaten foods into their basic ingredients. Similarly, when a specific...

Factor V Deficiency or Owren’s Disease: Causes, Symptoms, Treatment, Prevention, Prognosis, Complications

What is Factor V Deficiency or Owren's Disease? There are numerous diseases that only affect the human blood. Those diseases that only affect the most...

What is Beckers Myotonia, Know its Causes, Symptoms, Treatment, Pathophysiology, Complications, Risk Factors

During the period between birth and childhood, some children experience episodes of sustained muscle tensing particularly in the skeletal muscles including the muscles of...

Bloch-Sulzberger Syndrome: Causes, Symptoms, Treatment, Complications, Pathophysiology

Bloch-Sulzberger syndrome is a genetic disorder that affects the skin, hair, teeth and the central nervous system. It is an x-linked dominant genetic disorder...

What is Bulbospinal Muscular Atrophy & How is it Treated?

Bulbospinal muscular atrophy, also known as Kennedy Disease is a rare genetic disorder which primarily affects the lower motor neurons. It is a debilitating...

Factor V Leiden: Causes, Symptoms, Treatment, Recovery, Prognosis, Prevention

What is a Factor V Leiden? Factor V Leiden is an inherited disease. Factor V Leiden is a type of blood clotting disorder, which is...

Hemophilia: Causes, Symptoms, Treatment, Diagnosis

What is Hemophilia? Hemophilia is an inherited pathological condition in which there is an abnormality in the blood's ability to clot adequately. Hemophilia is normally...

Down Syndrome: Facts, Features, Causes, Treatment

What is Down Syndrome? Down Syndrome is a collection of physical and mental abnormalities that occur as a result of a gene defect before the birth...

How Common is Down Syndrome & Can it be Inherited?

How Common is Down Syndrome? When it comes to defining as to how common is Down Syndrome, then in the United States the numbers are...
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