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...

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...

Bazex syndrome is a rare genetic disorder characterized by the premature onset of male pattern baldness, along with other skin abnormalities such as hyperpigmentation, seborrheic dermatitis, and acanthosis nigricans. It is caused by a mutation in ...

Bazex-Dupre-Christol syndrome is a rare genetic disorder characterized by the presence of multiple skin tumors, nail abnormalities, and hair loss. It is caused by a mutation in the XPD gene, which is responsible for the production of a protein inv...

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth ...

Becker nevus syndrome is a rare skin disorder characterized by the presence of a large, dark, hairy patch of skin (known as a Becker nevus) on the back or chest. It is usually accompanied by other physical abnormalities, such as asymmetry of the f...

Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case. However, in many individuals, associated features ...

Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that affects the growth and development of a child. It is characterized by overgrowth of certain parts of the body, including the head, abdomen, and extremities. Other features of BWS ma...

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder caused by a microdeletion of the 11p15 region of the genome. It is characterized by overgrowth of certain parts of the body, including the tongue, abdominal organs, and other tissues. It is a...

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder caused by a microduplication of the 11p15 region of the genome. It is characterized by overgrowth of the body, abdominal wall defects, and an increased risk of certain types of cancer. BWS is...

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder caused by a genetic abnormality in the 11p15 region of the genome. This abnormality can be due to a translocation, inversion, or other structural rearrangement of the 11p15 region. BWS is cha...

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder caused by a mutation in the CDKN1C gene. It is characterized by overgrowth of certain parts of the body, including the tongue, abdominal organs, and other tissues. It can also cause a va...

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder caused by an imprinting defect of the 11p15 region of the genome. It is characterized by overgrowth of certain parts of the body, including the tongue, abdominal organs, and other body p...

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder caused by a mutation in the NSD1 gene. It is characterized by overgrowth of certain parts of the body, including the tongue, abdominal organs, and/or extremities. Other features of BWS i...

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder caused by a genetic abnormality in which a person has two copies of chromosome 11 from their father, instead of one copy from each parent. This is known as paternal uniparental disomy of...

Beemer-Ertbruggen syndrome is a rare genetic disorder characterized by intellectual disability, facial dysmorphism, and skeletal abnormalities. It is caused by a mutation in the PIGV gene. Symptoms may include delayed development, low muscle tone,...