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

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

Galactosemia: Causes, Symptoms, Treatment, Prognosis, Complications

Galactosemia is an inherited disorder in which the body is not able to appropriately metabolize sugar galactose resulting in various complications. In this article,...

Fraser Syndrome: Causes, Symptoms, Diagnosis, Treatment

Fraser Syndrome- This is a relatively rare medical condition in which there is visible webbing of the fingers and toes, renal dysfunction, genital malformations...

Gitelman Syndrome: Causes, Symptoms, Diagnosis, Treatment

Gitelman Syndrome- This is a rare autosomal recessive genetic disorder characterized by hypomagnesemia (low blood magnesium), hypocalciuria (abnormally decrease calcium level in urine) and...

Galloway-Mowat Syndrome: Causes, Symptoms, Diagnosis, Treatment

Galloway-Mowat Syndrome- This is an extremely rare autosomal recessive genetic disorder which is characterized by an unusually small head, presence of hiatal hernia, renal...

Phenylketonuria: Causes, Symptoms, Treatment, Prevention, Diet

What Is Phenylketonuria? Phenylketonuria (PKU) is a genetic disorder, in which the body is not able to break down a type of protein called phenylalanine....

Nail-Patella Syndrome: Causes, Symptoms, Diagnosis, Treatment

Nail-Patella Syndrome-This is a medical condition which is characterized by visible abnormalities in the nails, knees, elbows etc. This condition develops due to mutation...

Niemann-Pick Disease: Types, Causes, Symptoms, Diagnosis, Treatment, Prognosis, Prevention

What Is Niemann-Pick Disease? Niemann-Pick Disease is a group of genetic conditions, which affects the metabolism of fats or lipids in the body. In this...

Congenital Adrenal Hyperplasia: Causes, Types, Features, Diagnosis, Treatment, Prevention

Congenital adrenal hyperplasia (CAH) is a genetic disorder, in which the adrenal glands are affected. Normally, a person has a pair of adrenal glands,...

Zellweger Spectrum Disorders: Disease Mechanism & Causes

Zellweger spectrum disorders are a group of rare genetic conditions. The genetic disorders under this umbrella have a similar disease process and are considered as...

Alkaptonuria: Causes, Disease Mechanism, Symptoms, Diagnosis, Treatment, Prevention

Alkaptonuria is a condition, in which, urine of a person turns dark brownish or blackish in color when it gets exposed to air. It...
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