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78 results
  1. Klein-Waardenburg syndrome; Waardenburg-Shah syndrome ... Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means only one parent needs to ...
  2. ... Search term GeneReviews Advanced Search Help < Prev Next > Waardenburg Syndrome Type I Jeff Mark Milunsky , MD. Author Information ... 2007 ]. PAX3 and MITF double heterozygotes (WS1 and Waardenburg syndrome type II [WS2] combined phenotype) . Yang et al [ ...
  3. ... occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central ... synonym-list ><synonym >Anophthalmia-syndactyly</synonym><synonym ... >Anophthalmos with limb anomalies</synonym><synonym > ...
  4. ... acromelic syndrome</title><other_names ><other_name >Anophthalmia-Waardenburg syndrome</other_name><other_name >Anophthalmia-syndactyly</other_name>< ...
  5. Hearing loss can be caused by trauma, diseases, long term exposure to loud noise and other factors. Learn about the two types of hearing loss. ... It's frustrating ...
  6. 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.
  7. ... 3 are inherited in an autosomal recessive manner. Waardenburg syndrome is an auditory-pigmentary syndrome with sensorineural hearing ... hair, skin, and eyes. It is debated whether Waardenburg syndrome should be classified as a syndromic form of ...
  8. ... SOX 10 -associated leukodystrophy/peripheral and central demyelination, Waardenburg syndrome, and Hirschsprung disease (PCWH) (OMIM 609136 ) is an ... Involvement of the peripheral nervous system (sensory loss) Waardenburg syndrome (skin and hair pigmentation changes, heterochromia iridis, and ...
  9. ... ear. EDN3 EDNRB KITLG MITF PAX3 SNAI2 SOX10 Waardenburg syndrome (WS) (See Waardenburg Syndrome Type I .) SNHL Congenital Variable Most common type ... HL = hearing loss; SNHL = sensorineural hearing loss; WS = Waardenburg syndrome Table 6b. Select Common Causes of Autosomal Recessive ...
  10. ... Syndrome Smith-Magenis Syndrome Sotos Syndrome Trichothiodystrophy Syndromes Waardenburg Syndrome Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome Zellweger Syndrome ...
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