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  1. Waardenburg Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1531
    ... 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. 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. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... seen in OCA may not be present. See Waardenburg Syndrome Type I . 3. Differential Diagnosis of Ocular Findings in Oculocutaneous Albinism and Ocular ...
  4. 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.
  5. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1334
    ... variants or microdeletions in SOX10 can also cause Waardenburg syndrome, without IGD. ... Causes of Hypogonadotropic Hypogonadism Hypogonadotropic hypogonadism refers ...
  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. FOXP1 Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK594825
    ... deletions that include MITF , the gene associated with Waardenburg syndrome type IIA (OMIM ... Diagnosis Because the phenotypic features associated with FOXP1 syndrome ...
  8. Wiedemann-Steiner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK580718
    ... P, Lasseaux E, Arveiler B, Trimouille A. Triple diagnosis of Wiedemann-Steiner, Waardenburg ... a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Am ...
  9. Genetic Hearing Loss Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1434
    ... be bilateral & sudden Bilateral vestibular schwannomas w/assoc symptoms of tinnitus, HL, & ... Table 6b. Select Common Causes of Autosomal Recessive ...
  10. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... acromelic syndrome</title><other_names ><other_name >Anophthalmia-Waardenburg syndrome</other_name><other_name >Anophthalmia-syndactyly</other_name>< ...
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