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Results 1 - 6 of 6 for Autosomal dominant nonsyndromic hearing loss 10
  1. Nonsyndromic hearing loss 
    ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7. Citation ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. Palmoplantar keratoderma with deafness 
    ... Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss ... doi: 10.1002/ajmg.a.33464. Citation on PubMed Caria ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  3. Retinitis pigmentosa 
    ... Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa ... RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  4. Stickler syndrome 
    ... gov STICKLER SYNDROME, TYPE I; STL1 ... syndrome: a systematic review. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  5. Nonsyndromic paraganglioma 
    ... pheochromocytoma. KIF1B RET SDHA SDHB SDHD TMEM127 VHL Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../condition/nonsyndromic-paraganglioma - Genetics
  6. 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