Atypical chronic myeloid leukemia (aCML) is a rare form of chronic myeloid leukemia (CML) that is characterized by an abnormal number of white blood cells, an abnormal number of immature cells, and an abnormal number of blasts in the bone marrow. ...

Atypical coarctation of the aorta is a rare congenital heart defect in which the aorta is narrowed in an abnormal location. It is usually located in the descending aorta, just beyond the left subclavian artery. This condition can cause a decrease ...

Atypical dentin dysplasia due to SMOC2 deficiency is a rare genetic disorder that affects the development of teeth. It is caused by mutations in the SMOC2 gene, which is responsible for producing a protein that is essential for the formation of de...

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome is a rare genetic disorder that affects the body’s ability to regulate insulin levels. It is characterized by an abnormally high level of insulin in the blood, which can lead to a varie...

Atypical Gaucher disease due to saposin C deficiency is a rare, inherited disorder caused by a mutation in the GBA gene. This mutation results in a deficiency of the enzyme saposin C, which is responsible for breaking down certain fats in the body...

Atypical glycine encephalopathy is a rare genetic disorder that affects the brain. It is caused by a mutation in the GLDC gene, which is responsible for producing an enzyme called glycine decarboxylase. This enzyme is necessary for the metabolism ...

Atypical Hemolytic Uremic Syndrome (aHUS) is a rare, life-threatening disorder that affects the kidneys, blood, and other organs. It is caused by abnormal activity of the complement system, a part of the immune system. Symptoms of aHUS include ane...

Atypical hemolytic uremic syndrome with anti-factor H antibodies (aHUS-AFH) is a rare, life-threatening disorder caused by an abnormal immune response. It is characterized by the formation of antibodies against the protein factor H, which is invol...

Atypical hypotonia-cystinuria syndrome is a rare genetic disorder characterized by hypotonia (low muscle tone), cystinuria (an inherited disorder of amino acid metabolism), and other symptoms. Symptoms may include delayed development, intellectual...

Atypical juvenile parkinsonism is a rare neurological disorder that affects children and young adults. It is characterized by symptoms similar to those of Parkinson's disease, including tremors, slow movement, and difficulty with balance and coord...

Atypical lichen myxedematosus is a rare autoimmune disorder that affects the skin. It is characterized by the formation of thick, waxy patches on the skin, usually on the face, neck, and upper chest. These patches can be itchy and may cause pain o...

Atypical Meigs syndrome is a rare condition characterized by the presence of a benign ovarian tumor (fibroma) and ascites (fluid accumulation in the abdomen). It is usually associated with pleural effusions (fluid accumulation in the chest cavity)...

Atypical Norrie disease due to Xp11.3 microdeletion is a rare genetic disorder caused by a deletion of a small piece of genetic material on the X chromosome. It is characterized by severe vision loss, intellectual disability, and hearing loss. It ...

Atypical pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited neurological disorder caused by mutations in the PANK2 gene. It is characterized by progressive dystonia (involuntary muscle contractions) and other neurological...

Atypical papilloma of the choroid plexus is a rare, benign tumor that develops in the choroid plexus, a network of blood vessels and nerve fibers in the brain. It is usually found in the lateral ventricles, the two large cavities in the brain. Sym...

Atypical progressive supranuclear palsy (aPSP) is a rare neurological disorder that affects movement, balance, and other functions. It is a form of progressive supranuclear palsy (PSP), a group of disorders that cause problems with movement, balan...

Atypical teratoid rhabdoid tumor (AT/RT) is a rare, aggressive type of cancer that usually affects children under the age of three. It is a tumor of the central nervous system, most commonly found in the brain and spinal cord. AT/RT is a fast-grow...