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Results 1 - 10 of 48 for "Deafness," autosomal recessive 2
  1. Nonsyndromic hearing loss 
    ... DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, AUTOSOMAL ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. Renal tubular acidosis with deafness 
    ... Testing Registry: Renal tubular acidosis with progressive nerve deafness Autosomal recessive distal renal tubular acidosis National Organization for Rare Disorders (NORD) RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS; DRTA2 PubMed Alper ...
    https://medlineplus.gov/.../renal-tubular-acidosis-with-deafness - Genetics
  3. MYO7A gene 
    ... 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. Citation ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  4. Perrault syndrome 
    ... autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive ... Perrault syndrome 2 Genetic Testing Registry: Perrault syndrome 4 Genetic Testing ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  5. Wolfram syndrome 
    ... the CISD2 gene is also inherited in an autosomal recessive pattern. ... National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  6. Sensorineural deafness and male infertility 
    ... deafness and male infertility is inherited in an autosomal recessive pattern, which ... with two chromosome 15 deletions in each cell have sensorineural ...
    https://medlineplus.gov/...nsorineural-deafness-and-male-infertility - Genetics
  7. Pendred syndrome 
    ... not show signs and symptoms of the condition. Autosomal recessive sensorineural hearing ... Bizhanova A, Kopp P. Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):83-90. doi: 10.1016/j.mce.2010. ...
    https://medlineplus.gov/genetics/condition/pendred-syndrome - Genetics
  8. STRC gene 
    ... in affected males. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ...
    https://medlineplus.gov/genetics/gene/strc - Genetics
  9. GJB3 gene 
    ... on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  10. DOORS syndrome 
    ... not show signs and symptoms of the condition. Autosomal recessive deafness-onychodystrophy syndrome Deafness, onychodystrophy, osteodystrophy, and mental retardation ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
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