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6 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. 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 ...
  6. 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. The syndrome is characterized by deafness, ... undergone ovulation induction, IVF may be an option. Prevention of Secondary Complications Optimal calcium and vitamin D ...