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Results 1 - 10 of 10 for "Deafness," "X-linked" 5
  1. Nonsyndromic hearing loss 
    ... LINKED 1; DFNX1 DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6 DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY; DFNX5 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 DEAFNESS, X-LINKED 4; ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. Arts syndrome 
    ... Arts WF, Loonen MC, Sengers RC, Slooff JL. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol. 1993 May;33(5):535-9. doi: 10.1002/ana.410330519. Citation ...
    https://medlineplus.gov/genetics/condition/arts-syndrome - Genetics
  3. Charcot-Marie-Tooth disease 
    ... AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, ... CMTX5 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA CHARCOT-MARIE- ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  4. Deafness-dystonia-optic neuronopathy syndrome 
    ... 5):477-86. doi: 10.1093/hmg/11.5.477. Citation on PubMed Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, 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. TIMM8A gene 
    ... Stavljenic-Rukavina A. A contiguous deletion syndrome of X-linked agammaglobulinemia ... complex. Hum Mol Genet. 2002 Mar 1;11(5):477-86. doi: 10.1093/hmg/11.5. ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  6. BTK gene 
    ... 12. Citation on PubMed Smith CIE, Berglof A. X-Linked Agammaglobulinemia. 2001 Apr 5 [updated 2024 Jun 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... database for X-linked agammaglobulinemia. Hum Mutat. 2006 Dec;27(12):1209- ...
    https://medlineplus.gov/genetics/gene/btk - Genetics
  7. 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
  8. 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
  9. Alport syndrome 
    ... basement membrane nephropathy). ... Alport syndrome Autosomal dominant Alport syndrome ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  10. Norrie disease 
    ... Erratum In: Br J Ophthalmol. 2005 May;89(5):645. Citation on PubMed or Free ... Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J ...
    https://medlineplus.gov/genetics/condition/norrie-disease - Genetics