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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.
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 .
This disorder is characterized by the adult-onset triad consisting of the following symptoms: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. MRIS often reveals white matter abnormalities and bilateral thalamus lesions. Other symptoms include generalized myopathy, epilepsy, and deafness. [1] [2]
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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 ...
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [5]
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Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.