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Results 1 - 10 of 20 for "Deafness," "X-linked"
  1. Nonsyndromic hearing loss 
    ... DOMINANT 3A; DFNA3A DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A DEAFNESS, X-LINKED 3; DFNX3 DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13 DEAFNESS, ... RECESSIVE 3; DFNB3 DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5 DEAFNESS, X-LINKED 2; DFNX2 DEAFNESS, X-LINKED 1; DFNX1 DEAFNESS, ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. Arts syndrome 
    ... altered copy of the PRPS1 gene. Ataxia, fatal X-linked, with deafness and loss of vision Ataxia-deafness-optic atrophy, ... Arts WF, Loonen MC, Sengers RC, Slooff JL. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with ...
    https://medlineplus.gov/genetics/condition/arts-syndrome - Genetics
  3. Ocular albinism 
    ... type II Ocular albinism with late-onset sensorineural deafness X-linked recessive ocular albinism National Organization for Rare Disorders (NORD) ClinicalTrials.gov ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD ALBINISM, OCULAR, TYPE I; OA1 ALBINISM, OCULOCUTANEOUS, ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
  4. POU3F4 gene 
    ... Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations. BMC Med Genet. 2015 ... Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet. 1995 Aug;4(8): ...
    https://medlineplus.gov/genetics/gene/pou3f4 - Genetics
  5. Deafness-dystonia-optic neuronopathy syndrome 
    ... Arena F, Barker D, et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  6. RPGR gene 
    ... X-LINKED, AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 NCBI Gene ClinVar Ayyagari R, Demirci ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  7. TIMM8A gene 
    ... Stavljenic-Rukavina A. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. Pediatr Allergy Immunol. 2001 Apr;12(2):107- ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  8. BTK gene 
    ... Stavljenic-Rukavina A. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. Pediatr Allergy Immunol. 2001 Apr;12(2):107- ...
    https://medlineplus.gov/genetics/gene/btk - Genetics
  9. Charcot-Marie-Tooth disease 
    ... AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  10. Alport syndrome 
    Alport syndrome is a rare inherited disorder that damages the tiny blood vessels in the kidneys. It can also cause hearing loss and ...
    https://medlineplus.gov/ency/article/000504.htm - Medical Encyclopedia
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