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Results 1 - 10 of 18 for "Deafness," autosomal recessive 16
  1. ... in affected males. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed STEREOCILIN; ...
  2. ... RECESSIVE 18A; DFNB18A DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16 DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36 DEAFNESS, AUTOSOMAL ...
  3. ... F, Drira M, Ayadi H, Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet. 1997 Jun;16(2):191-3. doi: 10.1038/ng0697-191. ...
  4. ... 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 E, Bianchi ...
  5. ... Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 ...
  6. ... dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian ...
  7. The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, ...
  8. ... include nearsightedness as a feature. These conditions include autosomal recessive congenital ... ...
  9. ... related heart abnormalities, but their hearing is normal. Autosomal recessive long QT syndrome (LQTS) Cardio-auditory-syncope syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen Deafness, congenital, and functional heart disease Jervell-Lange Nielsen ...
  10. ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Bjornstad syndrome BJS Deafness and pili torti, Bjornstad type Pili torti and ...
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