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Results 1 - 10 of 23 for "Deafness," autosomal dominant 12
  1. ... DOMINANT 9; DFNA9 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12 DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A DEAFNESS, AUTOSOMAL ...
  2. ... 101:221-54. doi: 10.1016/B978-0-12-387685-0.00006-8. Citation on PubMed Walker LA, Bourque P, Smith AM, Warman Chardon J. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive ...
  3. ... in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss ... with dominant progressive deafness (DFNA20/26). Am J Hum Genet. 2003 Nov; ...
  4. ... nonsyndromic hearing loss: DFNA8/12 and DFNB21.DFNA8/12 is inherited in an autosomal dominant pattern, which means one mutated copy of the ... Casavant TL, Smith RJ, Moreno-Pelayo MA. DFNA8/12 caused by TECTA mutations ... nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7): ...
  5. ... 14; MYP14 MYOPIA 11, AUTOSOMAL DOMINANT; MYP11 MYOPIA 12, AUTOSOMAL DOMINANT; MYP12 MYOPIA 16, AUTOSOMAL DOMINANT; MYP16 MYOPIA 15, ...
  6. ... National Organization for Rare Disorders (NORD) KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; KIDAD KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE; KIDAR ...
  7. ... caused by abnormalities of the inner ear (sensorineural deafness). Autosomal dominant optic atrophy and cataract is one form of ... Hereditary Optic Neuropathy. PLoS One. 2017 Jan 12;12(1):e0170090. doi: ... for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 ...
  8. ... Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. Mol Vis. 2010 Jan 12;16:26-35. Citation on PubMed or Free ...
  9. ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have ... syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...
  10. ... a condition called optic atrophy type 1 and 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 ...
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