Alar cartilages hypoplasia-coloboma-telecanthus syndrome is a very rare disorder first described in two sisters. People with this condition have under...

Albinism is a congenital condition marked by a partial or complete lack of melanin pigment in the eyes, hair, or skin. This deficit in pigmentation pr...

albinism-hearing loss syndrome is a syndromic condition primarily characterized by congenital sensorineural deafness and distinctive pigmentary abnorm...

Alcoholic cardiomyopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alcoholic polyneuropathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alcohol-related birth defect is a condition resulting from maternal alcohol consumption during pregnancy that leads to a range of physical and cogniti...

ALDH18A1-related de Barsy syndrome is a neurocutaneous and connective tissue disorder characterized by developmental delay, intellectual disability, a...

Aldosterone-producing adenoma with seizures and neurological abnormalities is a very rare multisystem condition that combines endocrine dysfunction wi...

Aldosterone-producing adrenal cortex adenoma is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

ALECT2 amyloidosis is a rare form of amyloidosis where a protein called leukocyte chemotactic factor-2 (LECT2) builds up in body tissues. This protein...

Aleukemic leukemia is a form of cancer affecting the blood and bone marrow that is notable for the absence of detectable leukemic cells in the periphe...

Aleukemic leukemia cutis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It involves...

Aleukemic monocytic leukemia cutis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alexander disease is a neurological condition that affects the white matter of the brain and spinal cord and belongs to a group of disorders called le...

Alexander disease type I, also known as AxD type I, is an astrogliopathy affecting the brain, characterized by early onset before the age of 4. Indivi...

Alexander disease type II is a rare disorder that affects the brain by impacting astrocytes, the cells that support brain function. It is classified a...

ALG10-congenital disorder of glycosylation is a type of congenital disorder of glycosylation that affects the process by which sugars are attached to...

ALG11-congenital disorder of glycosylation is an extremely rare inherited condition classified among congenital disorders of glycosylation that affect...

ALG12-congenital disorder of glycosylation is a rare multisystem condition that falls within the group of congenital disorders of glycosylation, which...

ALG14-congenital disorder of glycosylation is a condition affecting the normal process of N-glycosylation, an essential biochemical pathway for proper...