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Batten Disease, or neuronal ceroid lipofuscinosis (NCL), is a rare condition characterized by progressive mental deterioration (dementia), epilepsy and vision loss. It results when lipofuscin, a substance made of fat and protein, builds-up in brain cells and causes them to die off. Batten disease was named after the British pediatrician who first described it in 1903. There are four main types of ...

Beals syndrome is a rare, heritable disorder of the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Beals syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Beals syndrome can affect many areas, including the skeleton, mus...

Becker Muscular Dystrophy (BMD) is a rare genetic disorder that causes muscles to deteriorate over time. As there is more and more muscle wasting, there is more and more loss in muscle strength. BMD is very similar to Duchenne Muscular Dystrophy (DMD), except the symptoms are milder in Becker Muscular Dystrophy. Progression of symptoms is slower and less predictable than those associated with D...

Beckwith-Wiedemann syndrome (BWS) is a disorder of overgrowth characterized by macrosomia (large body size), macroglossia (large tongue), visceromegaly (large organs in the abdomen), tumors (Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma), omphalocele (large sack-like herniation of the umbilicus), neonatal hypoglycemia (low blood sugars), and ear creases and pits. ...

Behcet’s Disease is a chronic, relapsing inflammatory disease of the blood vessels that can affect several systems including the neurological and vascular systems as well as the mouth, eyes, skin, joints and genitals. Behcet’s Disease is considered an autoimmune disease and as such the exact underlying cause is unknown. ...

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Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All