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Hearing "loss," autosomal dominant 80
- ... has different patterns of inheritance. Between 75 and 80 percent of cases ... has an autosomal dominant pattern of inheritance, which means one copy of ...
- Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. ...
- ... I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered ... their family.Marshall syndrome also typically has an autosomal dominant pattern of inheritance.Stickler syndrome types IV, V, ...
- ... and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one ... mild symptoms of the disorder.Some cases of autosomal dominant or type X Charcot-Marie-Tooth disease result ...
- ... COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance, which means one copy of ... gene. Type V is also inherited in an autosomal dominant pattern.Less commonly, osteogenesis imperfecta has an autosomal ...
- ... IE. DNMT1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology. 2013 Feb 26;80(9):824-8. doi: 10.1212/WNL.0b013e318284076d. ...
- ... the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... spastic paraplegia type 7 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Hereditary spastic paraplegia, paraplegin type ... PubMed Atorino L, Silvestri L, Koppen ...
- ... CYLD Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance, which means one copy of ...
- ... 18q deletion syndrome is considered to be an autosomal dominant condition, which means one copy of the deleted ...