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"Deafness," autosomal dominant 20
- ... gamma 1 actin-like protein cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma-actin Tests of ...
- ... DOMINANT 11; DFNA11 DEAFNESS, X-LINKED 6; DFNX6 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23 DEAFNESS, AUTOSOMAL RECESSIVE 21; ...
- ... external ophthalmoplegia More About This Health Condition ... as autosomal dominant optic atrophy (ADOA)-plus syndrome. ADOA-plus syndrome ...
- ... inherited in an autosomal dominant pattern in about 20 to 30 percent of cases. People ... syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...
- ... encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-3. doi: 10.1038/3845. Erratum ...
- ... DOMINANT; MYP16 MYOPIA 15, AUTOSOMAL DOMINANT; MYP15 MYOPIA 20, AUTOSOMAL DOMINANT; MYP20 MYOPIA 19, AUTOSOMAL DOMINANT; MYP19 PubMed Cheng ...
- ... in people with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder include ...
- ... the gene from an affected parent. In about 20 percent of cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or very early in development.Unlike most autosomal dominant conditions, in which one altered copy of a ...
- ... Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness ... 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
- ... mutations. MITF ... Albinism and complete nerve deafness Albinism-deafness of Tietz Hypopigmentation-deafness syndrome Hypopigmentation/ ...