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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
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- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
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- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… have abnormal bone growth that causes the following clinical symptoms: short stature with disproportionately … walking. … Achondroplasia is diagnosed by characteristic clinical and X-ray findings in most affected individuals. In … is 25 percent. Additional Resources for Achondroplasia Genetics Home Reference: Achondroplasia Little People of …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… animals, such as mice, and attempting to duplicate the clinical features of HD. Fetal tissue research: Investigators … light on how HD is passed from generation to generation. Clinical trials of drugs: Drug testing includes classes of … HDBuzz The HD Lighthouse Hereditary Disease Foundation Genetics Home Reference Huntington's Outreach Project for …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… condition. … The diagnosis of Duane syndrome is based on clinical findings. Mutations in the CHN1 gene are associated … Direct sequencing of the CHN1 gene is available as a clinical test, and has to date detected missense mutations in … Orphanet Duane's Retraction Syndrome - Yahoo! Groups Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… vary greatly among those who have the disorder. The major clinical symptoms include: Enlargement of the liver and … disorders. … The diagnosis of Gaucher disease is based on clinical symptoms and laboratory testing. A diagnosis of … disease is currently being conducted at the Medical Genetics Branch of the National Human Genome Research …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… acidemia. However, most patients with cblA and cblB show clinical and metabolic improvement with supplementation with … visit a genetic counselor or physician who specializes in genetics when they are considering starting a family. … …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… you know has porphyria, we recommend that you contact a genetics clinic to discuss this information with a genetics professional. To find a genetics clinic near you, contact your primary doctor for a …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… called the 22q11.2 deletion syndrome. It also has other clinical names such as DiGeorge syndrome, conotruncal anomaly … schizophrenia. … VCFS is suspected as a diagnosis based on clinical examination and the presence of the signs and … for VCFS Velocardiofacial Syndrome [nidcd.nih.gov] Genetics Home Reference: 22q11.2 deletion syndrome The …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… helpful to discuss these issues with a professional in genetics who is trained to recognize features that might … of the brain and facial malformations and associated clinical complications. The older literature suggested that …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… The diagnosis of Noonan syndrome is based on the person's clinical symptoms and signs. The specialist examines the … than 1 percent). Additional Resources on Noonan Syndrome Genetics Home Reference: Noonan syndrome Noonan Syndrome …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… several laboratory tests that can be used to clarify the clinical diagnosis of myotonic dystrophy. One test, called … known. Additional Resources on Myotonic Muscular Dystrophy Genetics Home Reference: DMPK gene Genetics Home Reference: CNBP gene NINDS Muscular Dystrophy …