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

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

Coffin-Lowry Syndrome: Causes, Symptoms, Diagnosis, Treatment

What Is Coffin-Lowry Syndrome? Coffin–Lowry Syndrome as stated is a genetic medical condition, which is X-linked dominant and causes severe mental retardation along with severe...

Centronuclear Myopathies (CNM): Treatment, Types, Diagnosis

Centronuclear Myopathies (CNM) are a group of neuromuscular disorders; primarily of the muscles responsible for movement; called the skeletal muscles. These are the conditions...

Fibrodysplasia Ossificans Progressiva: Causes, Symptoms, Diagnosis, Treatment

What Is Fibrodysplasia Ossificans Progressiva? As stated, Fibrodysplasia Ossificans Progressiva is a rare genetic disorder of the connective tissues in which the fibrous tissues of the...

Methylmalonic Acidemia: Causes, Symptoms, Diagnosis, Treatment, Prognosis, Complications

What Is Methylmalonic Acidemia? Methylmalonic Acidemia is an inherited medical condition in which the body is unable to process certain proteins and fats causing a...

Hypophosphatasia: Causes, Symptoms, Diagnosis, Treatment

What Is Hypophosphatasia? Hypophosphatasia is a genetic pathological condition affecting the development of bones and teeth. This condition arises due to lack of mineralization which is...

Waardenburg Syndrome: Types, Causes, Symptoms, Diagnosis, Treatment

What Is Waardenburg Syndrome? Waardenburg Syndrome is a group of genetic disorders which tends to cause hearing loss, skin pigmentation changes, color changes in hair...

Macular Degeneration Treatment: Stem Cell Technology

"Of all the senses, Sight must be the most delightful." One of the beautiful saying from Helen Keler which implies how important eyes are...

Hunter Syndrome: Causes, Symptoms, Diagnosis, Treatment

What Is Hunter Syndrome? Hunter Syndrome is the term given to a significantly rare genetic medical condition in which an enzyme called iduronate-2-sulfatase, Which facilitates...

Hurler Syndrome: Causes, Symptoms, Diagnosis, Treatment, Prognosis, Life Expectancy

What Is Hurler Syndrome? Hurler Syndrome is a significantly rare genetic medical condition in which the body is unable to break down sugar molecules called...

Sanfilippo Syndrome: Causes, Types, Symptoms, Diagnosis, Treatment, Life Expectancy, Complications

What Is Sanfilippo Syndrome? Sanfilippo Syndrome is a genetic metabolic disorder, in which the body is unable to break down a sugar molecule called glycosaminoglycans....
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