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Educational Resources
Congenital conditions are those present from birth.
CongenitalCongenital 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
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
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 …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… clinical relevance or validity of genes in various genetic disorders for their use in precision medicine and research. … Resources … Genomics experts dispute nine genes linked to congenital heart condition … An expert panel from the …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is …
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 …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… on understanding the causes and biology of a number of congenital disorders as well as applying emerging technologies and … MGU does plan to focus increasingly on certain types of congenital anomalies and conditions. … Yan K, Rousseau J, …
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