Results 1 -
10
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147
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Hearing "loss," autosomal recessive
- ... on PubMed Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, Feldman J, ...
- ... condition. AR dRTA with deafness AR dRTA with hearing loss Autosomal recessive distal renal tubular acidosis with deafness Renal tubular ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal ... with new evidence for hearing loss. J Med Genet. 2002 Nov;39(11):796- ...
- ... mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries one copy of the mutated gene but ... Hereditary hearing loss and deafness Nonsyndromic hereditary sensorineural hearing ... AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, ...
- ... accounts for about half of all cases of autosomal recessive nonsyndromic hearing loss. It is characterized by mild to profound hearing ... Smith RJH, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: ...
- ... Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4): ... Najmabadi H, Smith RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 ...
- ... syndrome Genetic Testing Registry: Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Keratitis-ichthyosis-deafness syndrome, autosomal recessive KID syndrome National Organization for Rare Disorders (NORD) ...
- ... of the alpha-tectorin protein lead to different hearing loss characteristics.DFNB21 is inherited in an autosomal recessive pattern, which means both copies of the TECTA ...
- ... Condition MedlinePlus Genetics provides information about Age-related hearing loss More About This Health Condition DFNA11 DFNB2 MYO7A_HUMAN myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) NSRD2 USH1B Tests of MYO7A PubMed MYOSIN ...
- ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet. 2002 Nov;39(11):796- ...
- ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet. 2002 Nov;39(11):796- ...
