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Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) is a … syndrome), Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane … is a rare, congenital eye movement disorder. … Genetic Disorders …
Educational Resources
Congenital conditions are those present from birth.
… Congenital … Congenital conditions are those present from birth. … Birth … Genetic Mutation, Newborn Screening, Genetics, Pregnancy … Congenital refers to a condition or trait that exists at birth. Congenital conditions or traits may be hereditary or result …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… with ADHD may also have learning disabilities, behavioral disorders or disorders of mood such as depression or anxiety. Problems … their behavior and pay attention to tasks. … Genetic Disorders …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… is a pattern of inheritance characteristic of some genetic disorders. … Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is … is a pattern of inheritance characteristic of some genetic disorders. … Talking Glossary …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… interests focus on genetically-caused neuromuscular disorders of childhood. In his clinical practice, formerly at … focus is on early-onset muscle disease, including the congenital myopathies, congenital muscular dystrophies, and the often rapidly …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic … forms of neurofibromatosis. … Overview … List of Genetic Disorders … Featured Content … Genetic Disorders … A list of genetic, orphan and rare diseases under …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… diagnosed in people between the ages of 20 - 30. … 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 …