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"Deafness," autosomal dominant 12
- ... DOMINANT 9; DFNA9 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12 DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A DEAFNESS, AUTOSOMAL ...
- ... 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 ...
- ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have ... syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...
- ... syndrome. SALL1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Anal-ear-renal-radial malformation syndrome Deafness-imperforate anus-hypoplastic thumbs syndrome Imperforate anus-hand ...
- ... people with HID also occurs in keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... paralyzed facial muscles (facial nerve palsy), blindness, or deafness.The x-rays of ... Craniometaphyseal dysplasia is a ...
- ... GJB2 LORICRIN ... Congenital deafness with keratopachydermia and constrictions of fingers and toes ...
- ... caused by CHN1 gene variants, it has an autosomal dominant inheritance pattern. ... Appukuttan B, Gillanders E, Juo SH, ...
