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Results 1 - 10 of 33 for Syndromic genetic hearing loss
  1. Vohwinkel syndrome 
    Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.In the classic form of Vohwinkel syndrome, affected individuals ...
    https://medlineplus.gov/genetics/condition/vohwinkel-syndrome - Genetics
  2. Keratitis-ichthyosis-deafness syndrome 
    Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.People with KID syndrome usually have keratitis, ...
    https://medlineplus.gov/.../keratitis-ichthyosis-deafness-syndrome - Genetics
  3. Palmoplantar keratoderma with deafness 
    Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  4. Bart-Pumphrey syndrome 
    Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.People with Bart-Pumphrey syndrome typically have a white discoloration ...
    https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome - Genetics
  5. Hystrix-like ichthyosis with deafness 
    Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like ...
    https://medlineplus.gov/.../hystrix-like-ichthyosis-with-deafness - Genetics
  6. Jackson-Weiss syndrome 
    ... cell is sufficient to cause the disorder. JWS ... Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J ...
    https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome - Genetics
  7. Retinitis pigmentosa 
    ... described as syndromic. The most common form of syndromic retinitis ... genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  8. Nonsyndromic hearing loss 
    ... associated with nonsyndromic hearing loss can also cause syndromic forms of ... to genetic changes, hearing loss can result from environmental factors ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  9. COL11A2 gene 
    ... that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4): ... RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  10. Thiamine-responsive megaloblastic anemia syndrome 
    ... responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss TRMA Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, with diabetes ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
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