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Other symptoms that often occur include a gap or hole in one of the structures of the eye, abnormally small eyes, underdeveloped eyes, narrowed nasal passages, swallowing issues, facial paralysis, a diminished or absent sense of smell, inner ear abnormalities, hearing abnormalities, an unusually shaped ear, and a square faced shape. Minor/less effective symptoms include heart defects, delayed growth, delayed motor skills, brain abnormalities, an abnormal connection between the esophagus and the trachea, and one may also have [[Neurodivergent|speech or learning disabilities.]] |
Other symptoms that often occur include a gap or hole in one of the structures of the eye, abnormally small eyes, underdeveloped eyes, narrowed nasal passages, swallowing issues, facial paralysis, a diminished or absent sense of smell, inner ear abnormalities, hearing abnormalities, an unusually shaped ear, and a square faced shape. Minor/less effective symptoms include heart defects, delayed growth, delayed motor skills, brain abnormalities, an abnormal connection between the esophagus and the trachea, and one may also have [[Neurodivergent|speech or learning disabilities.]] |
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Less common features include kidney abnormalities, immune system abnormalities, scoliosis, finger or toe abnormalities, an upward turning foot, and longer than usual bones. |
Less common features include kidney abnormalities, immune system abnormalities, scoliosis, finger or toe abnormalities, an upward turning foot, and longer than usual bones. |
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== Causes == |
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This syndrome is caused by mutations of the ''CHD7'' gene. The ''CHD7'' gene provides instructions for making a protein that regulates gene activity, so when it is mutated, ones DNA is less packed than it is supposed to be.<ref>https://en.wikipedia.org/wiki/CHARGE_syndrome</ref> |
This syndrome is caused by mutations of the ''CHD7'' gene. The ''CHD7'' gene provides instructions for making a protein that regulates gene activity, so when it is mutated, ones DNA is less packed than it is supposed to be.<ref>https://en.wikipedia.org/wiki/CHARGE_syndrome</ref> |
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