Search Results
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.
… feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant disability. A small number of …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… sight and/or hearing loss, and, in some individuals, scoliosis (curvature of the spine). People with CMT disease …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic inflammatory disorder …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Syndromes to Mendelian Diseases: 1) Systemic Juvenile Idiopathic Arthritis: One Name, Many Faces and 2) The …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… differences in the spine such as curvature of the spine (scoliosis) or bony abnormalities in the neck or upper back; …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… imperfecta), abnormal curvature of the spine (scoliosis) and loose joints. People with this condition may …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… Surgery may be needed for severe contractures and scoliosis. … Duchenne muscular dystrophy is inherited in an …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… to cryptococcal meningoencephalitis associated with idiopathic CD4+ lymphopenia and secondary germline or …