- Klein-Waardenburg syndrome; Waardenburg-Shah syndrome ... Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means only one parent needs to ...
- ... 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 [ ...
- ... 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 > ...
- ... acromelic syndrome</title><other_names ><other_name >Anophthalmia-Waardenburg syndrome</other_name><other_name >Anophthalmia-syndactyly</other_name>< ...
- 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 ...
- 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.
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... Syndrome Smith-Magenis Syndrome Sotos Syndrome Trichothiodystrophy Syndromes Waardenburg Syndrome Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome Zellweger Syndrome ...
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