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Results 1 - 10 of 19 for "X-linked" deafness
  1. 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
  2. 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
  3. Nonsyndromic hearing loss 
    ... Registry: Nonsyndromic genetic hearing loss Genetic Testing Registry: X-linked deafness Genetic Testing Registry: Hereditary hearing loss and deafness ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  4. 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
  5. Ocular albinism 
    ... type I 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
  6. 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
  7. 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
  8. RPGR gene 
    ... regulator XLRP3 Tests of RPGR PubMed RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  9. Nearsightedness 
    ... conditions include autosomal recessive congenital stationary night blindness, X-linked congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen syndrome. ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  10. Charcot-Marie-Tooth disease 
    ... AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH ... DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
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