Barth Syndrome is a rare genetic disorder that affects the heart, muscles, and immune system. It is caused by a mutation in the gene that codes for the enzyme tafazzin. Symptoms of Barth Syndrome include cardiomyopathy, skeletal muscle weakness, g...

Bartonellosis is a bacterial infection caused by the bacteria Bartonella. It is also known as Carrion's disease or bartonellosis. Symptoms of bartonellosis can include fever, headache, fatigue, and swollen lymph nodes. In some cases, it can also c...

Bartsocas-Papas syndrome is a rare genetic disorder characterized by craniofacial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the PAPB gene. Symptoms may include a distinctive facial appearance...

Bartter Syndrome is a rare inherited disorder that affects the kidneys and causes them to excrete too much salt and water. It is caused by a defect in the kidney's ability to reabsorb salt and water, resulting in low levels of potassium and other ...

Bartter syndrome type 1 is a rare inherited disorder that affects the kidneys and causes them to excrete too much salt and water. It is caused by a mutation in the SLC12A1 gene, which is responsible for the production of a protein that helps regul...

Bartter syndrome type 2 is a rare inherited disorder that affects the kidneys and causes them to excrete too much salt and water. It is caused by a mutation in the SLC12A1 gene, which is responsible for the production of a protein that helps regul...

Bartter syndrome type 3 is a rare inherited disorder that affects the kidneys and causes them to excrete too much salt and water. It is caused by a mutation in the SLC12A1 gene, which is responsible for the production of a protein that helps regul...

Bartter syndrome type 4 is a rare inherited disorder caused by mutations in the SLC12A1 gene. It is characterized by low levels of potassium in the blood, low levels of chloride in the blood, and high levels of bicarbonate in the blood. Symptoms m...

Bartter syndrome type 5 is a rare genetic disorder that affects the kidneys and causes them to excrete too much salt and potassium. It is caused by a mutation in the SLC12A1 gene, which is responsible for the production of a protein that helps reg...

Basal encephalocele is a rare birth defect in which the brain and its covering (meninges) protrude through an opening in the skull. It is caused by a failure of the skull bones to close properly during fetal development. Symptoms may include seizu...

Basel-Vanagaite-Smirin-Yosef syndrome (BVYS) is a rare genetic disorder characterized by intellectual disability, seizures, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein CACNA1A, which is involved in calcium s...

Bathing suit ichthyosis is a rare skin disorder characterized by thick, scaly patches of skin that resemble the texture of a bathing suit. It is caused by a genetic mutation that affects the production of proteins in the skin. Symptoms of bathing ...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...