Search Results
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Affected boys may have behavioral problems such as hyperactivity, hand flapping, hand biting, temper tantrums … is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex … most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… behavioral, and/or psychiatric disorders including autism, attention deficit disorder, obsessive compulsive disorder, anxiety disorders, …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Noonan syndrome is a disorder that involves unusual facial characteristics, short … Noonan syndrome is a disorder that involves unusual facial characteristics, short … and usually have a more severe or atypical form of the disorder. The cause of Noonan syndrome in the remaining 10 to …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… may include feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant disability. A small …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified in about 400 people …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… deficiency in the liver. Hemochromatosis, an iron overload disorder, can also predispose individuals to PCT. Twenty … types: Also called congenital porphyria. This is a rare disorder that mainly affects the skin. It results from low … inherited in an autosomal recessive pattern. An uncommon disorder that mainly affects the skin. It results from …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… arched foot or gait disturbances. Other symptoms of the disorder may include foot-bone abnormalities such as high … investigate whether the GARS gene plays some role in this disorder. And two defective forms of the gene implicated in …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.