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80 results
  1. ... variant, has WS3 [ Wollnik et al 2003 ]. Differential Diagnosis Waardenburg syndrome type I (WS1) needs to be differentiated from ... Table 5. Genes of Interest in the Differential Diagnosis of Waardenburg Syndrome Type I View in own window Gene(s) ...
  2. ... disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease , an intestinal disorder that causes ...
  3. ... disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes ...
  4. ... seen in OCA may not be present. See Waardenburg Syndrome Type I . 3. Differential Diagnosis of Ocular Findings in Oculocutaneous Albinism and Ocular ...
  5. Read about skin pigmentation disorders, which affect the color of your skin. It could be too light or too dark, in certain areas or all over the body.
  6. ... be a feature of other conditions, such as Waardenburg syndrome ; these conditions have other genetic causes and additional signs and symptoms. The KIT gene provides instructions for making a ...
  7. ... but they typically do not show signs and symptoms of the condition. Other Names for This Condition Anophthalmia-syndactyly Anophthalmia-Waardenburg syndrome Anophthalmos with limb anomalies Anophthalmos-limb anomalies syndrome ...
  8. ... variants or microdeletions in SOX10 can also cause Waardenburg syndrome, without IGD. ... Causes of Hypogonadotropic Hypogonadism Hypogonadotropic hypogonadism refers ...
  9. ... Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are less common. The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from ...
  10. ... parts of the intestine cause the signs and symptoms of Hirschsprung disease. A lack of melanocytes affects the coloring of skin, hair, and eyes and causes the hearing loss characteristic of Waardenburg syndrome. More About This Health Condition Cancers Several studies ...
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