Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for ...

Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While ...

Isolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases it may ...

Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this ...

Early-onset isolated dystonia is one of many forms of dystonia, which is a group of conditions characterized by involuntary tensing of the muscles (muscle contractions), ...

Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands ...

Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe "classic" form ... Encephalopathy due to sulfite oxidase deficiency ISOD Sulfocysteinuria Isolated sulfite oxidase deficiency National Organization for Rare Disorders ( ...

Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary ... in FIPA, the pituitary adenomas are described as isolated because only the pituitary gland is affected. Pituitary ...

Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral ...

Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye ...