Results 1 -
10
of
24
for
"Deafness," autosomal dominant 12
- ... DOMINANT 9; DFNA9 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12 DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A DEAFNESS, AUTOSOMAL ...
- ... 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 ...
- ... in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss ... with dominant progressive deafness (DFNA20/26). Am J Hum Genet. 2003 Nov; ...
- ... 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): ...
- ... 14; MYP14 MYOPIA 11, AUTOSOMAL DOMINANT; MYP11 MYOPIA 12, AUTOSOMAL DOMINANT; MYP12 MYOPIA 16, AUTOSOMAL DOMINANT; MYP16 MYOPIA 15, ...
- ... National Organization for Rare Disorders (NORD) KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; KIDAD KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE; KIDAR ...
- ... 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 ...
- ... 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 ...
- ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have ... syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...
- ... 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 ...