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Results 1 - 8 of 8 for Autosomal dominant nonsyndromic hearing loss 30
  1. Nonsyndromic hearing loss 
    ... an autosomal dominant pattern. Mutations in at least 30 genes have been identified in people with autosomal dominant nonsyndromic hearing loss; mutations in some of these genes (including GJB2 ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. COL11A2 gene 
    ... in this gene can cause two forms of nonsyndromic hearing loss: DFNA13 and DFNB53.DFNA13 is inherited in an autosomal dominant pattern, which means only one mutated copy of ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  3. Stickler syndrome 
    ... TYPE I; STL1 MARSHALL SYNDROME; MRSHS OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; ... impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7- ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  4. Retinitis pigmentosa 
    ... more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 ... accounting for 20 to 30 percent of all cases. At least 35 genes ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  5. Palmoplantar keratoderma with deafness 
    ... Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  6. WFS1 gene 
    ... Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. Mol ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  7. GJB3 gene 
    ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. Biochim Biophys Acta. 2013 Jan;1832(1):285-91. doi: 10.1016/j.bbadis.2012.05.009. Epub 2012 May 19. Citation on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5): ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  8. Muenke syndrome 
    ... should. FGFR3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. FGFR3-associated coronal synostosis Muenke nonsyndromic coronal craniosynostosis Genetic Testing Registry: Muenke syndrome Muenke ...
    https://medlineplus.gov/genetics/condition/muenke-syndrome - Genetics