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Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… is a rare, congenital eye movement disorder. … Genetic Disorders …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… of disproportionate short stature. … Achondroplasia, Bone Disorders, FGFR3 Gene, Gene Mutation … Achondroplasia is a … common form of disproportionate short stature. … Genetic Disorders …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major … that slows down the blood clotting process. … Genetic Disorders …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading … some examples are listed below. IEM Examples Urea cycle disorders Ornithine transcarbamylase deficiency, … Tyrosinemia, phenylketonuria, homocysteinuria Carbohydrate disorders Galactosemia, fructosemia Mitochondrial disorders …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… progressive destruction of the nervous system. … Genetic Disorders …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited … cell disease is a group of inherited red blood cells disorders … Sickle Cell Disease, Inherited Blood Disorders, Gene Mutation, Hemoglobin-beta, Chromosome 11, Red …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… the blood of a chemical known as phenylalanine. … Genetic Disorders …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities … sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  The … … Sequencing all 24 human chromosomes uncovers rare disorders … Extending noninvasive prenatal screening to all …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Urology Cure Foundation National Organization for Rare Disorders Genetic and Rare Disease Information Center Finding … by the growth of numerous cysts in both kidneys. … Genetic Disorders …