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Hearing "loss," autosomal dominant 82
- ... slightly short stature, myopia, cataracts, joint pain, and hearing loss.In at least one case of fibrochondrogenesis caused by a COL11A2 gene mutation, the condition was inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... progressive external ophthalmoplegia is usually inherited in an autosomal dominant pattern, which means one copy of the altered ... Registry: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Genetic Testing Registry: Progressive external ophthalmoplegia with ...
- ... COL2A1 gene can also cause a condition called autosomal dominant rhegmatogenous retinal detachment. Rhegmatogenous retinal detachment occurs when ... JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation ...
- ... properly. COL2A1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... Megerian CA. Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. ... Citation on PubMed Silveira KC, Bonadia LC, Superti- ...
- ... Branchio-oculo-facial syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, ...
- ... essential tremor appears to be inherited in an autosomal dominant pattern, which means one copy of an altered ...
- ... chromosome 7 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... VHL Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered ...
