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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" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Trisomy 18 is a fatal chromosomal condition that can be detected during pregnancy.It's also at the center of a new legal case in Texas, where a mom of two, Kate Cox, is seeking an abortion after ...
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [ 3 ] Babies are often born small and have heart defects . [ 3 ]
A new TLC reality series, Jay & Pamela, is just around the corner—and its stars are an engaged couple born with the same super-rare genetic disorder.. On March 4, viewers will officially meet ...
rare, only 35 cases have been reported in medical literature Deaths FBXW7 neurodevelopmental syndrome is a newly discovered genetic disorder which is characterized by gastrointestinal, brain, and muscle anomalies accompanied by intellectual disabilities and developmental delays .
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Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...
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