Lynch syndrome 8 is a hereditary condition that increases the risk for colon cancer. It is caused by a specific genetic change where a part of the EPC...

Lysinuric protein intolerance is a very rare inherited multisystem condition that affects amino acid metabolism. It results from pathogenic variants i...

Lysosomal acid lipase deficiency is a metabolic condition that impacts several organ systems, particularly the liver and gastrointestinal tract, and i...

Lysosomal acid phosphatase deficiency is an extremely rare condition that affects the body’s ability to properly break down certain substances within...

Lysosomal glycogen storage disease is a metabolic disorder affecting the normal breakdown of glycogen within cells. It is associated with pathogenic v...

Lysosomal lipid storage disorder is an inherited metabolic condition characterized by the abnormal accumulation of lipids within cells and tissues due...

Lysosomal storage disease is a metabolic disorder resulting from dysfunction in proteins critical for lysosomal function, leading to impaired cellular...

Lysosomal storage disease with skeletal involvement is a condition that primarily affects the bones and may involve additional organ systems due to im...

LZTFL1-related ciliopathy is a disorder that arises from changes in the LZTFL1 gene. This condition is part of a group of disorders known as ciliopath...

Information about LZTR1-related schwannomatosis is currently limited for this condition. This condition is also known by several other names, includin...

Machado-Joseph disease, also known as spinocerebellar ataxia type 3 (SCA3), is a rare neurodegenerative disorder. It is the most common subtype of typ...

Machado-Joseph disease type 1 is a rare and often severe subtype of Machado-Joseph disease, which is also known as spinocerebellar ataxia type 3 or SC...

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) that is known for its intermediate severity. People with this conditio...

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (also known as SCA3 or Machado type) that tends to be milder compared to other su...

Machado-Joseph disease type 4 is a rare subtype of Machado-Joseph disease, also known as the azorean disease or type iv. This condition is marked by P...

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome is a rare multiple congenital anomaly syndrome marked by an unu...