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- 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
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 …
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.
… and webbing of the fingers of the hand on the same side. … Genetic Disorders …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… condition that alters development in females. … Genetic Disorders …