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Results 1 - 10 of 13 for "Deafness," autosomal recessive 26
  1. Keratitis-ichthyosis-deafness syndrome 
    ... ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; KIDAD KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE; KIDAR PubMed Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert Rev ...
    https://medlineplus.gov/.../keratitis-ichthyosis-deafness-syndrome - Genetics
  2. CDH23 gene 
    ... TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  3. SLC26A4 gene 
    The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  4. Nonsyndromic hearing loss 
    ... DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  5. Charcot-Marie-Tooth disease 
    ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  6. Wolfram syndrome 
    ... the CISD2 gene is also inherited in an autosomal recessive pattern. Diabetes insipidus and mellitus with optic atrophy and deafness Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  7. GJB2 gene 
    ... Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  8. Burn-McKeown syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of ... cardiac defects, deafness, and dysmorphic appearance BMKS Choanal atresia-hearing loss- ...
    https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome - Genetics
  9. Riboflavin transporter deficiency neuronopathy 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry ... with deafness Progressive bulbar palsy with sensorineural deafness Riboflavin transporter ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  10. Ehlers-Danlos syndrome 
    ... as brittle cornea syndrome, are inherited in an autosomal recessive pattern. In autosomal recessive inheritance, two copies of a gene in each ... often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
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