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Results 1 - 10 of 45 for Hearing "loss," "X-linked" 1
  1. X-linked chondrodysplasia punctata 1 
    ... X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects. The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-1 - Genetics
  2. Nonsyndromic hearing loss 
    ... the gene from a parent who also has hearing loss.Between 1 and 2 percent of cases have an X-linked pattern of inheritance. A condition is considered X- ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  3. POU3F4 gene 
    ... KY, Choi JY, Bok J, Kim UK. Nonsyndromic X-linked hearing loss. Front Biosci (Elite Ed). 2012 Jan 1;4(3):924-33. doi: 10.2741/E430. ...
    https://medlineplus.gov/genetics/gene/pou3f4 - Genetics
  4. Newborn Screening Tests for Your Baby (March of Dimes Foundation)  
    Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation
    https://www.marchofdimes.org/.../newborn-screening-tests-your-baby - External Health Links
  5. PRPS1 gene 
    ... Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This Health Condition ... M, Taylor W, Smith PR, Becker MA. Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase. J Biol ...
    https://medlineplus.gov/genetics/gene/prps1 - Genetics
  6. RPGR gene 
    ... RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 NCBI Gene ClinVar Ayyagari R, Demirci FY, ... Jablonski MM. Clinical and immunohistochemical evidence for an X linked ... infections and hearing loss in association with an RPGR mutation. J Med ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  7. FLNA gene 
    ... WB, Wood NW, Walsh CA. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as ... Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008. Citation ... filaminopathies: Synergistic insights from clinical and molecular analysis. ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  8. Alport syndrome 
    ... ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT; ATS3A ALPORT SYNDROME 1, X-LINKED; ATS1 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2 PubMed ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  9. Otopalatodigital syndrome type 1 
    ... as a sandal gap). Affected individuals also have hearing loss.Infants with otopalatodigital syndrome type 1 may be born with an opening in the ... specific signs and symptoms of otopalatodigital syndrome type 1. FLNA ... This condition is inherited in an X-linked pattern. A condition is considered X-linked if ...
    https://medlineplus.gov/.../otopalatodigital-syndrome-type-1 - Genetics
  10. Deafness-dystonia-optic neuronopathy syndrome 
    ... are typically unaffected; however, they may develop mild hearing loss and dystonia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
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