Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… body. Vitamin B12 deficiency states that are not due to genetic causes, such as vitamin B12 deficiency, can also … of methylmalonic acidemia or cobalamin disorders visit a genetic counselor or physician who specializes in genetics … to process certain proteins and fats (lipids) properly. … Genetic Disorders …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… a cleft palate. … Velocardiofacial syndrome (VCFS) is a genetic condition that is sometimes hereditary. VCFS is … that all parents of a child with a 22q11.2 deletion seek genetic counseling before or during a subsequent pregnancy to … the most common syndrome associated with a cleft palate. … Genetic Disorders …
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.
… families. There are a number of causes of HPE, including genetic alterations and environmental effects. The cause of … into the double lobes of the cerebral hemispheres. … Genetic Disorders …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… degeneration of the muscles and loss of sensation. … Genetic Disorders …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… usually at least 20, which allows for the diagnosis of genetic conditions in both the full and mosaic state. In some … X chromosome. The most common symptom is infertility. … Genetic Disorders …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… type, only males are affected, while females carry the genetic trait but do not experience serious vision loss. … affect the retina (the light-sensitive part of the eye). … Genetic Disorders …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… corticosteroids, a disturbance of endocrine function, or a genetic cause since it seems to run in some families. Some … chiefly in post-menopausal, obese women of middle age. … Genetic Disorders …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Medline Plus: Phenylketonuria Children's PKU Network Genetic Testing Registry: Phenylketonuria GARD: … in the blood of a chemical known as phenylalanine. … Genetic Disorders …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… developmental delays and malformations of the ribs. … Genetic Disorders …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… this may be the only sign of the problem. A specific genetic test (polymerase chain reaction [PCR]) can now be … disability caused by a mutation in the FMR1 gene. … Genetic Disorders …