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62 results
  1. Waardenburg syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome
    ... disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease , an intestinal disorder that causes ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes ...
  3. Skin Pigmentation Disorders 
    https://medlineplus.gov/skinpigmentationdisorders.html
    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.
  4. Piebaldism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/piebaldism
    ... 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 ...
  5. Ophthalmo-acromelic syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/ophthalmo-acromelic-syndrome
    ... 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 ...
  6. Waardenburg syndrome 
    https://medlineplus.gov/ency/article/001428.htm
    ... 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 ...
  7. EDN3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/edn3
    ... 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 Other Names for ...
  8. EDNRB gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ednrb
    ... 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 ...
  9. SOX10 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/sox10
    ... 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. Researchers have found that variants in the SOX10 ...
  10. ACTG2-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299311
    ... can be caused by pathogenic variants of ACTG2 . Waardenburg syndrome type ... Following Initial Diagnosis To establish the extent of disease and needs ...
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