What is Jarcho-Levin Syndrome: Symptoms, Causes, Treatment, Prognosis, Diagnosis

What is Jarcho-Levin Syndrome? Jarcho-Levin Syndrome is an autosomal recessive genetic disorder and is hence, a condition present by birth. It causes the malformation of...

What is Branchiootorenal Spectrum Disorder & How is it Treated?| Causes, Symptoms, Treatment, Epidemiology,...

What is Branchiootorenal Spectrum Disorder or BORSD? The Branchiootorenal Spectrum Disorder is a rare genetic condition that is an autosomal dominant genetic condition. This is...

Bowen Hutterite Syndrome: Causes, Symptoms, Treatment, Epidemiology, Diagnosis

What is Bowen Hutterite Syndrome The Bowen Hutterite Syndrome is one of the rare genetic conditions that become rather prominent right at the time of...

What Causes Androgen Insensitivity Syndrome & How Is It Treated?

Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome is a pathological condition characterized by the inability of the body to respond normally to androgen, which is primarily...

Is There A Genetic Factor For How Much Sleep You Need?

Is There A Genetic Factor For How Much Sleep You Need? Everyone knows the importance of sleep for your health. However, in today's busy and...

What Is the Best Treatment For Niemann Pick Disease?

Niemann Pick Disease is a type of genetic medical condition. The disease mainly occurs in four different variants i.e. types A, B, C, and...

What Are The First Symptoms Of Niemann Pick Disease & How Do You Test...

Niemann Pick Disease (abbreviated as NPD) implies a group of diseases, which passed down from inherited families, where fatty substances i.e. lipids accumulate within...

What Leads To Niemann Pick Disease & Can It Be Cured?

Niemann Pick disease refers to a group of severe and inherited metabolic disorders. In this type of disease, sphingomyelin accumulates within lysosomes in human...

Is Niemann Pick Disease Fatal & Is It Dominant Or Recessive?

Niemann Pick is an inherited and rare type of disease, which affects the ability of a person to metabolize fat i.e. lipids and cholesterol...

Understanding Dopamine Deficiency Syndrome

Dopamine is a neurotransmitter found naturally in the human body.(1) Dopamine sends signals to the brain from the body.(1) It has an important part in controlling...

Brugada Syndrome

What is a Brugada Syndrome? The human heart is comprised of four chambers. The two upper chambers are known as Atria and the two chambers...

What Are The Presenting Features Of Hunter Syndrome?

What is Hunter Syndrome? Hunter Syndrome is an extremely rare inherited medical condition characterized by a dysfunctional enzyme called iduronate 2-sulfatase.(1) This enzyme functions by breaking...

What Are The Types Of Niemann Pick Disease & How Is It Inherited?

Niemann Pick disease is a rare genetic disorder, which happens due to the absence of an enzyme called sphingomyelinase. This enzyme is responsible for...

Life Expectancy Of Someone With Niemann Pick Disease

The Niemann Pick disease is a hereditary disorder related to lysosomal storage. The Niemann-Pick disease is a part of the group of diseases involving...

How Common Is Niemann Pick Disease Or Is It A Rare Disease?

Niemann Pick disease is a hereditary disease that affects the metabolism of lipids or how fats, lipids, and cholesterol are stored in or removed...

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