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40 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... 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 > ...
  2. TUBB4A-Related Leukodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK395611
    ... 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 ...
  3. Hearing Problems and Deafness | Hearing Loss | MedlinePlus 
    https://medlineplus.gov/hearingdisordersanddeafness.html
    ... Vohwinkel syndrome: MedlinePlus Genetics (National Library of Medicine) Waardenburg syndrome: MedlinePlus Genetics (National Library of Medicine) Weissenbacher-Zweymüller ...
  4. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... 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 ...
  5. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Syndrome Smith-Magenis Syndrome Sotos Syndrome Trichothiodystrophy Syndromes Waardenburg Syndrome Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome Zellweger Syndrome ...
  6. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 929 Trisomy 18 Syndrome C16.131.077.938 Waardenburg Syndrome C16.131.077.941 Weill-Marchesani Syndrome C16. ... Rewarming E02.895 Salvage Therapy E02.897 Secondary Prevention E02.900 Self Care E02.900.100 Blood ...
  7. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... 077.899...........................................Trichothiodystrophy Syndromes C16.131.077.938...........................................Waardenburg Syndrome C16.131.077.941...........................................Weill-Marchesani Syndrome C16. ...
  8. pdf2017NewMeshHeadingsSingleColumnWithScopeAnTree.pdf 
    https://www.nlm.nih.gov/...shHeadingsSingleColumnWithScopeAnTree.pdf
    ... Mutations in the PAX3 gene are associated with WAARDENBURG SYNDROME TYPE 1. Tree locations: Paired Box Transcription Factors ...
  9. NLM Digital Collections - Oral Health in America: A Report of the Surgeon General 
    Publication: National Institute of Dental and Craniofacial Research (U.S.), 2000
    resource.nlm.nih.gov/101584932X142
    ... include hypodontia, anodontia, and conically shaped teeth. The Waardenburg Syndrome The Waardenburg syndrome has been subdivided into several types. All involve ...
  10. PLP1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1182
    ... of inheritance; PCWH = peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; XL = X-linked 1. Genes ...
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