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Results 1 - 10 of 24 for "Deafness," autosomal recessive 23
  1. ... DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21 DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13 DEAFNESS, ...
  2. ... 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 ...
  3. The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, ...
  4. ... in affected males. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ...
  5. ... on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. ...
  6. ... not show signs and symptoms of the condition. Autosomal recessive deafness-onychodystrophy syndrome Deafness, onychodystrophy, osteodystrophy, and mental retardation ...
  7. ... dominant keratitis-ichthyosis-hearing loss syndrome Keratitis-ichthyosis-deafness syndrome, autosomal recessive KID syndrome National Organization for Rare Disorders (NORD) ...
  8. ... TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the ...
  9. ... and male infertility. CATSPER2 STRC chromosome 15 Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 ...
  10. ... 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 ...
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