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Zeta-associated-protein 70 deficiency (often called ZAP-70 deficiency) is a rare, inherited problem of the immune system. It mainly affects T cells, which are white blood cells...
Combined immunodeficiency due to ZAP70 deficiency is a very rare genetic immune system disease where a child’s T cells do not work properly because a key...
Microphthalmia-coloboma-rhizomelic skeletal dysplasia is a very rare genetic syndrome that affects eye development, bone growth, and sometimes the brain and other organs. “Microphthalmia” means one or...
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a very rare genetic condition that starts when the baby is still in the womb. In this syndrome, the eyes do...
Coenzyme Q10 deficiency disease is a rare health problem where the body does not have enough coenzyme Q10 (also called CoQ10 or ubiquinone). CoQ10 is a...
Coenzyme Q10 deficiency means the body does not have enough coenzyme Q10 (also called CoQ10 or ubiquinone). CoQ10 is a fat-like substance that sits inside tiny...
Wallis-Zieff-Goldblatt syndrome is an extremely rare genetic bone growth problem. It mainly affects the bones near the shoulders and the upper arms, and also the collarbones...
Rhizomelic shortness with clavicular defect is an extremely rare genetic bone condition. It mainly affects the upper parts of the arms and the collarbones (clavicles). “Rhizomelic”...
Cleidorhizomelic syndrome is an extremely rare genetic bone growth disorder (skeletal dysplasia). It mainly affects the upper parts of the arms and legs (called “rhizomelic” limb...
Zlotogora-Zilberman-Tenenbaum syndrome is an extremely rare genetic condition in which the outer layer of the body (skin, hair, nails, teeth, some glands) and parts of the...
Zlotogora-Ogur syndrome is a very rare genetic disease that mainly affects body parts made from the outer layer of the embryo (the ectoderm), such as skin,...
Cystic-multilocular variant; Grawitz tumor is a type of kidney cancer that forms many fluid-filled spaces (cysts) separated by thin walls inside the kidney. It belongs to...
