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39
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"Deafness," autosomal recessive 2
- ... DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, AUTOSOMAL ...
- ... 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 ...
- ... 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 ...
- ... autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive ... Perrault syndrome 2 Genetic Testing Registry: Perrault syndrome 4 Genetic Testing ...
- ... the CISD2 gene is also inherited in an autosomal recessive pattern. ... National Organization for Rare Disorders (NORD) ...
- ... 15 ... (typical for males) who have two chromosome 15 deletions in each cell have deafness- ...
- ... 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. ...
- ... deafness-infertility syndrome. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ...
- ... not show signs and symptoms of the condition. Autosomal recessive deafness-onychodystrophy syndrome Deafness, onychodystrophy, osteodystrophy, and mental retardation ...
- ... on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. ...