CHMP4B early-onset non-syndromic cataract is a rare inherited eye disease where the clear lens inside the eye becomes cloudy in childhood or early adult life ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Cataract 18 disease caused by mutation in FYCO1 is a rare genetic eye disease in which the clear lens of the eye becomes cloudy because of harmful changes ...
Early-onset non-syndromic cataract caused by mutation in PITX3 is a rare genetic eye disease where the clear lens of the eye becomes cloudy in infancy or early ...
Autosomal recessive syndromic multiple cataract 11 (CTRCT11) is a rare inherited eye disease where a child is born with cloudy lenses in both eyes (congenital ...
Cataract-microcornea syndrome is a rare genetic eye condition in which a baby is born with both a cloudy lens (congenital cataract) and a small cornea ...
Cataract–congenital heart disease–neural tube defect syndrome is a very rare genetic condition in which a baby is born with problems in three main body systems ...
Foshay-Mollaret cat scratch fever is an old medical name for what we now usually call cat-scratch disease or cat-scratch fever. It is a bacterial infection ...
Schachenmann’s syndrome is another name for Cat Eye Syndrome (CES), a very rare genetic condition that affects many parts of the body, especially the eyes, ...
Schmid-Fraccaro syndrome (cat eye syndrome) is a rare genetic condition that a baby is born with. It happens when the baby has an extra small piece of ...
Cat eye syndrome (often shortened to CES) is a chromosome problem. Cat eye syndrome is a rare genetic condition that affects many parts of the body, especially ...
Maroteaux-Le-Merrer-Bensahel syndrome is the name used for carpotarsal osteochondromatosis (CTOC), an ultra-rare primary bone dysplasia marked by abnormal bone ...
Acrocephalopolysyndactyly type 2 is the medical name for Carpenter syndrome. It is a rare, inherited condition present from birth. Two body systems are ...
Carpenter syndrome is a rare genetic condition. It affects how the skull, face, fingers, toes, and some internal organs form before birth. The skull bones ...
Caroli syndrome is a rare birth (congenital) disorder of the bile ducts inside the liver. In this condition, the large bile ducts are abnormally wide (dilated) ...
Infantile Carnitine Palmitoyltransferase II (CPT II) Deficiency is a rare, inherited problem with fat burning inside the mitochondria (the cell’s power plant). ...
Carnitine palmitoyltransferase II (CPT II) deficiency is a rare, inherited disorder of fat breakdown. Our muscles and other organs use fat as a major fuel, ...
Disorder of the Carnitine Cycle and Carnitine Transport Caused by CPT1A Mutation is a rare, inherited metabolic disease. The CPT1A enzyme sits on the outer ...
CPT1A disorder (also called CPT I deficiency) is a genetic problem with fat burning. The CPT1A enzyme sits on the outer wall of the mitochondria in liver and ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
CPT1A (Carnitine Palmitoyltransferase I-A) Deficiency is a genetic disorder in which the liver enzyme CPT1A does not work well. This enzyme sits on the outer ...
Carnitine palmitoyltransferase type I deficiency is a rare, inherited problem of energy use. The body needs to burn long-chain fats to make energy during ...
