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Results 1 - 10 of 13 for Waardenburg syndrome
  1. Waardenburg syndrome 
    ... not show signs and symptoms of the condition. Waardenburg's syndrome Genetic Testing Registry: Waardenburg syndrome type 1 Genetic ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  2. Ophthalmo-acromelic syndrome 
    ... and symptoms of the condition. Anophthalmia-syndactyly Anophthalmia-Waardenburg syndrome Anophthalmos with limb anomalies Anophthalmos-limb anomalies syndrome ...
    https://medlineplus.gov/.../condition/ophthalmo-acromelic-syndrome - Genetics
  3. PAX3 gene 
    ... gene variants have been identified in people with Waardenburg syndrome, a group of genetic conditions that can cause ... and eyes. Specifically, PAX3 gene variants can cause Waardenburg syndrome types I and III.Some of these variants ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  4. SOX10 gene 
    ... SOX10 gene have been identified in people with Waardenburg syndrome type II and type IV (also known as ... disease or Waardenburg-Shah syndrome). Both types of Waardenburg syndrome are characterized by changes in skin, hair, and ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  5. EDNRB gene 
    ... disease is a feature of another condition called Waardenburg syndrome type IV (described below), EDNRB gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. People with a variant in one of the ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  6. MITF gene 
    ... Tietz syndrome may be a severe form of Waardenburg syndrome (described below).The MITF gene variants that cause ... MITF gene have been identified in people with Waardenburg syndrome type II, a disorder that can cause hearing ...
    https://medlineplus.gov/genetics/gene/mitf - Genetics
  7. EDN3 gene 
    ... disease is a feature of another disorder called Waardenburg syndrome type IV (described below), EDN3 gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. These variants change one DNA building block (nucleotide) ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  8. SNAI2 gene 
    ... About This Health Condition In some cases of Waardenburg syndrome type II, both copies of the SNAI2 gene ... loss of pigmentation that are characteristic features of Waardenburg syndrome type II. More About This Health Condition neural ...
    https://medlineplus.gov/genetics/gene/snai2 - Genetics
  9. Piebaldism 
    ... be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional ... 1747.ep12399455. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...
    https://medlineplus.gov/genetics/condition/piebaldism - Genetics
  10. Tietz syndrome 
    ... represent a severe form of a disorder called Waardenburg syndrome, which can also be caused by MITF gene ... MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet. 2012 May;20(5): ...
    https://medlineplus.gov/genetics/condition/tietz-syndrome - Genetics
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