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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 ...
- Alport Syndrome (National Kidney Foundation)Hearing Disorders and Deafness/Specifics ... Hearing Disorders and Deafness ... Kidney Diseases/Specifics ... Kidney Diseases ... National Kidney Foundation ... Alport syndrome ...
- ... 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): ...
- Learning about Osteogenesis Imperfecta (National Human Genome Research Institute)Osteogenesis Imperfecta/Genetics ... Osteogenesis Imperfecta ... National Human Genome Research Institute ... From the National Institutes of Health ... Osteogenesis imperfecta ...