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Results 1 - 10 of 11 for Hearing "loss," autosomal dominant 81
  1. Retinitis pigmentosa 
    ... genetic counseling. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. ... with autosomal dominant retinitis pigmentosa: a screen of known genes in ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  2. Alport syndrome 
    ... by hematuria. Alport syndrome is inherited in an autosomal dominant pattern in about 20 to 30 percent of ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have only hematuria (thin ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  3. Cornelia de Lange syndrome 
    ... gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  4. Treacher Collins syndrome 
    ... TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered ... the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits ...
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome - Genetics
  5. Hereditary paraganglioma-pheochromocytoma 
    ... SDHD Hereditary paraganglioma-pheochromocytoma is inherited in an autosomal dominant pattern, which means one copy of the altered ... Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet. 2000 Nov;26( ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  6. Hajdu-Cheney syndrome 
    ... condition. NOTCH2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  7. Lateral meningocele syndrome 
    ... understood. NOTCH3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../condition/lateral-meningocele-syndrome - Genetics
  8. NOG gene 
    ... Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  9. Saethre-Chotzen syndrome 
    ... chromosome 7 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  10. CYLD cutaneous syndrome 
    ... CYLD Susceptibility to CYLD cutaneous syndrome has an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome - Genetics
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