A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or...

The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene"...

protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions...

organisms Genetic, used as an adjective, refers to genes Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo Genetic mutation...

Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt...

prominent example of a genetically determined neurodevelopmental disorder is trisomy 21, also known as Down syndrome. This disorder usually results from...

Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and almost exclusively in girls. Symptoms include impairments...

Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone...

Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through...

eliminating genetic disorders, it is important to consider that when certain individuals are prevented from breeding, alleles and therefore genetic diversity...

procedures difficult. Autism is associated with several genetic disorders, perhaps due to an overlap in genetic causes. About 10–15% of autism cases have an identifiable...

for genetic counseling in the health care system. The offspring of consanguineous relationships are at greater risk of certain genetic disorders. Autosomal...

62.8 centimetres (2 ft 3⁄4 in). Her restricted height is due to a genetic disorder called primordial dwarfism. In 2012, she met the world's shortest man...

is a phenomenon whereby as a genetic disorder is passed on to the next generation, the symptoms of the genetic disorder become apparent at an earlier...

Hematologic diseases are disorders which primarily affect the blood and blood-forming organs. Hematologic diseases include rare genetic disorders, anemia, HIV, sickle...

Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy...

Schizophrenia is a mental disorder characterized variously by hallucinations (typically, hearing voices), delusions, disorganized thinking and behavior...

Pseudoautosomal region XY sex-determination system Genetic disorder Griffiths, Anthony J. F. (1999). An Introduction to genetic analysis. New York: W.H. Freeman....

Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include...

the other developmental disorders, and there is not the same evidence of a shared genetic liability. Developmental disorders are present from early life...

implicating genetic, neurological, and psychosocial conditions in its development. A genetic predisposition is evident, with the disorder significantly...

deletion disorder. Duplications: A portion of the chromosome has been duplicated, resulting in extra genetic material. Known human disorders include Charcot–Marie–Tooth...

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21...

be divided into dominant and recessive patterns. The first X-linked genetic disorder described on paper was by John Dalton in 1794, then later in 1910,...

twins, families and molecular genetics have shown that the disorder is primarily genetic with a heritability rate of 70-80%, where risk factors are highly...

various genetic syndromes. These disorders are typically linked to other systemic manifestations. Tuberous Sclerosis Complex (TSC): TSC is a genetic condition...

for 30–50% of these cases. About a quarter of cases are caused by a genetic disorder, and about 5% of cases are inherited. Cases of unknown cause affect...

are genetically more diverse, and therefore no genetic disorders are more common in these groups as a whole; instead, they tend to have the genetic diseases...

of neurological problems vary, but can include genetic disorders, congenital abnormalities or disorders, infections, lifestyle, or environmental health...

Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and...