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"Deafness," autosomal recessive 23
- ... DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21 DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13 DEAFNESS, ...
- ... Testing Registry: Renal tubular acidosis with progressive nerve deafness Autosomal ... Alper SL. Familial renal tubular acidosis. J Nephrol. 2010 Nov-Dec;23 Suppl 16:S57-76. Citation on PubMed Andreucci ...
- The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, ...
- ... deafness-infertility syndrome. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ... j.jmoldx.2014.06.003. Epub 2014 Aug 23. Citation on PubMed Nishio SY, ... AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, ...
- ... on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. ...
- ... not show signs and symptoms of the condition. Autosomal recessive deafness-onychodystrophy syndrome Deafness, onychodystrophy, osteodystrophy, and mental retardation ...
- ... dominant keratitis-ichthyosis-hearing loss syndrome Keratitis-ichthyosis-deafness syndrome, autosomal recessive KID syndrome National Organization for Rare Disorders (NORD) ...
- ... TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the ...
- ... with deafness-infertility syndrome. CATSPER2 STRC chromosome 15 Deafness-infertility syndrome is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 ...
- ... not show signs and symptoms of the condition. Autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter Deafness with goiter Goiter-deafness syndrome Pendred's syndrome ...