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Hearing "loss," autosomal dominant 90
- ... sufficient to cause the condition. Most people with autosomal dominant hearing loss inherit an altered copy of the gene from ... mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. ...
- ... deafness, which results in both vision loss and hearing loss. OPA1 mutations can also cause a condition known as autosomal dominant optic atrophy (ADOA)-plus syndrome. ADOA-plus syndrome ...
- ... are thought to cause two forms of nonsyndromic hearing loss: DFNA11 and DFNB2.DFNA11 is inherited in an autosomal dominant pattern, which means only one mutated copy of ...
- ... These include autosomal dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In some cases, these conditions can cause abnormal bone growth and related skeletal abnormalities. Rarely, affected individuals have hearing loss or circulation problems in the brain. Other people ...
- ... abnormal function in the inner ear, resulting in hearing loss, and changes in the ... dominant Alport syndrome. Individuals with this form typically have ...
- ... SIX5 BOR/BO syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 90 percent of cases, an affected person inherits the ...
- ... the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler ... inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome ...
- ... encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4): ...
- ... 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 ...
- ... gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
