Al-Gazali–Khidr–Prem Chandran syndrome (also called cherubism with optic atrophy and short stature). This is an extremely rare condition where a child has ...

Light-chain amyloidosis—often shortened to AL amyloidosis—is a disease where abnormal proteins called light chains are made by a small group of blood cells ...

AL amyloidosis is a disease where certain white blood cells in the bone marrow (called plasma cells) make abnormal light-chain proteins. These light chains ...

AKT2-related familial partial lipodystrophy is a rare inherited condition in which the body loses normal fat from some areas (usually the limbs) and keeps or ...

AIDS Dementia Complex (ADC) is brain and nerve injury that happens in some people living with HIV, usually when the immune system has been weak for a long ...

Chronic lymphocytosis of cerebrospinal fluid (CSF)” means there are too many lymphocytes (a type of white blood cell) in the CSF for a long time. CSF is the ...

“Encephalopathy” means a problem with brain function. “Intracranial calcification” means tiny calcium deposits inside the brain. Put together, encephalopathy ...

Cree encephalitis is a genetic disorder that causes long-lasting inflammation in the brain and its white matter. It usually starts in infancy or early ...

Aicardi-Goutières syndrome is a rare genetic disease. It mainly affects the brain, immune system, and skin. Babies or young children develop brain inflammation ...

Agenesis of the corpus callosum with chorioretinal abnormality is a rare neuro-eye disorder that begins before birth. The main brain bridge (the corpus ...

Aicardi syndrome is a rare brain and eye development disorder that almost always affects baby girls. Doctors first look for a “classic triad”: 1) the corpus ...

ATIC deficiency is a very rare, inherited metabolic disease. It happens when both copies of the ATIC gene do not work properly. The ATIC gene makes a single ...

5-amino-4-imidazole carboxamide ribosiduria is an ultra-rare, inherited metabolic disease that affects how the body makes purines, the building blocks of DNA, ...

AICA-ribosiduria is an ultra-rare genetic disease. It happens when a gene called ATIC does not work properly. ATIC makes a single protein that does two final ...

“Dysmorphism syndrome” is a broad medical term doctors use when a person has a pattern of body or facial features that look different from what is common in ...

Xia-Gibbs syndrome is a rare genetic condition that affects brain growth and body development. It happens when one copy of a gene called AHDC1 does not work ...

AHDC1-related intellectual disability is a genetic condition that affects how the brain develops and works. It is usually caused by a new (de novo) change in a ...

Granulopenia means your blood has fewer granulocytes than normal. Granulocytes are a group of white blood cells that fight germs. The main one is the ...

A granulocytopenic disorder means the number of granulocytes in the blood is lower than normal. Granulocytes are a group of white blood cells that fight germs. ...

Granulocytopenia means your blood has fewer granulocytes than normal. Granulocytes are a family of white blood cells that include neutrophils, eosinophils, and ...