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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
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- 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
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 …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… of autism is based on standardized testing plus a clinical evaluation by an autism specialist. These … not certain what causes autism, but it's likely that both genetics and environment play a role. The causes of autism …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… wide neck or swelling of the hands and feet. The two main clinical features of Turner syndrome are short stature and … Resources for Turner Syndrome NICHD: Turner Syndrome Genetics Home Reference: Turner Syndrome Medline Plus: Turner …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… NEI: Retinitis Pigmentosa GARD: Retinitis Pigmentosa Genetics Home Reference: Retinitis Pigmentosa Foundation …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… weakness, and autonomic dysfunction. The degree to which clinical symptoms of fragile X are present (penetrance) is …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… on how severe it is. PA can be detected through thorough clinical evaluation and from a variety of specialized tests. … MedicineNet: Poland Syndrome Medline Plus: Poland Syndrome Genetics Home Reference: Poland Syndrome GARD: Poland …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… making this family more likely to develop the condition. Genetics: The Basics Our genetic material is stored in the … for this disease by setting up an appointment with a genetics health professional. Genetic professionals work as … Disease Information Page Medline Plus: Parkinson's Disease Genetics Home Reference: Parkinson Disease Parkinson …