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

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

Does Moyamoya Run In Families?

Moyamoya is a blood vessel disorder which is very rare. In this condition, carotid artery present in the skull area narrows leading to insufficient...

Is Rett Syndrome Hereditary & Can A Person With Rett Syndrome Have Children?

Rett syndrome is a disorder of the brain, which occurs exclusively in girls. This article deals with the common concerns of whether Rett syndrome...

What is Kallmann Syndrome & How is it Treated?|Causes, Signs, Symptoms, Prognosis of Kallmann Syndrome

Kallmann syndrome is a condition where the puberty stage is completely absent or delayed in some cases. In the life cycle of human beings,...

Is Moyamoya A Genetic Disease?

Moyamoya disease refers to blood vessels’ disorder in the human brain, especially in the arteries belonging to one’s internal carotid and other arteries, which...

What is Myotubular Myopathy: Causes, Symptoms, Treatment, Diagnosis

What is Myotubular Myopathy? Myotubular myopathy is recognized as a severe type of centronuclear myopathy, which is viewed as a kind of inherited myopathy which...

What is Refsum Disease: Causes, Symptoms, Treatment, Complications, Prognosis, Diagnosis

What is Refsum Disease? Refsum disease is named after a Norwegian neurologist Sigvald Bernhard Refsum. It is a neurological disorder mainly caused by the deposition...

Neuronal Ceroid Lipofuscinosis – Causes, Symptoms, Diagnosis & Treatment

What is Neuronal Ceroid Lipofuscinosis? Neuronal Ceroid Lipofuscinosis (NCL) belongs to a group of neurodegenerative disorders where accumulation of lipopigments is seen which is thought...

Roussy Levy Syndrome: Causes, Symptoms, Treatment, Diagnosis

What is Roussy Levy Syndrome? Roussy Levy syndrome is a congenital disease. Roussy Levy syndrome leads to disruption of signals between Schwann cells and neurons...

Is Hunter Syndrome Fatal & What Are Its Complications?

Hunter syndrome is a rare X linked inherited disorder of carbohydrate metabolism (mucopolysaccharides). Mucopolysaccharidosis is of type I, type II, type III, type IV,...

Lifestyle Changes For Hunter Syndrome

Hunter syndrome or mucopolysaccharidosis type II is a rare, X linked recessive inherited metabolic disorder in which there is deficiency or lack of lysosomal...
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