Disease Directory

Leber optic atrophy and dystonia is a rare condition known by several names, including LDYT, LHON and dystonia, and Marsden syndrome. The condition ap...

Leber plus disease is a condition seen in people who have the features of Leber's hereditary optic neuropathy (LHON), along with other serious systemi...

Leber-like hereditary optic neuropathy, autosomal recessive 1 is an inherited condition that primarily affects the optic nerve, leading to visual dist...

Information about overview is currently limited for this condition.

Legg-Calve-Perthes disease is a condition that affects the hip region in children. It is characterized by the loss of blood supply (avascular necrosis...

Legionnaires' disease is a type of pneumonia caused by Legionella pneumophila and other Legionella species. It is an infection that typically leads to...

Legius syndrome is a rare genetic condition that primarily affects skin pigmentation. People with Legius syndrome tend to have multiple café-au-lait s...

Leigh syndrome is a progressive neurological disorder characterized by distinct brainstem and basal ganglia lesions. It is associated with pathogenic...

Leigh syndrome with cardiomyopathy is a rare mitochondrial disorder characterized by neurological and cardiac symptoms. While specific genes have not...

Lelis syndrome is a rare condition that is characterized by a combination of ectodermal dysplasia and acanthosis nigricans. Ectodermal dysplasia in th...

Lemierre syndrome is a rare infection that starts in the throat and mainly affects healthy adolescents and young adults. It is caused by a bacterium c...

Lennox-Gastaut syndrome is a severe childhood epileptic encephalopathy that primarily affects the developing brain. It is associated with genetic chan...

Lenz-Majewski hyperostotic dwarfism is an extremely rare condition characterized by dwarfism, a distinctive facial appearance, cutis laxa, and progres...

Leri pleonosteosis is a condition marked by unique changes in the fingers and toes. People with this condition often have broadening and deformity of...

Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia, a condition that affects the development of bones. People with this condition often have a...

Information about overview is currently limited for this condition.

Lesch-Nyhan syndrome is a severe hereditary disorder of purine metabolism caused by pathogenic variants in the HPRT1 gene. The resulting enzyme defici...

Lessel-Kreienkamp syndrome, also known as LESKRES, is a rare condition. It has been linked to changes in the AGO2 gene. Detailed explanations about wh...

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a very rare ectodermal dysplasia syndrome. It is characteriz...

Lewis-Sumner syndrome is a rare nerve disorder that affects adults. It is an acquired demyelinating polyneuropathy, which means that the protective co...