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...
35 KB (3,579 words) - 03:15, 20 September 2024
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"...
42 KB (983 words) - 10:34, 21 August 2024
protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions...
54 KB (6,417 words) - 22:25, 24 September 2024
prominent example of a genetically determined neurodevelopmental disorder is trisomy 21, also known as Down syndrome. This disorder usually results from...
45 KB (4,629 words) - 10:26, 26 September 2024
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...
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Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt...
92 KB (10,560 words) - 04:48, 29 September 2024
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...
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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...
76 KB (8,408 words) - 00:31, 30 September 2024
CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5. The symptoms of CDD include early infantile...
25 KB (2,458 words) - 08:29, 3 July 2024
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,...
19 KB (2,366 words) - 09:55, 19 September 2024