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3 Possible Causes for Hearing Loss Initially Affects Mid and High Frequencies, Mutation in the CLIC5 Gene

  • Autosomal Recessive Deafness 103

    Gene Human Gene Mutation Database (HGMD) CLIC5 SNPedia medical, phenotypic, and genealogical associations of SNPs for CLIC5 No data available for Polymorphic Variants from[genecards.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] AAAGA intron-variant rs1000040608 -- 45,953,686( ) GTGCA(C/T)GAAAG intron-variant rs1000049165 -- 46,103,530( ) AGACC(A/T)CCTTT intron-variant Relevant External Links for CLIC5[genecards.org]

  • Juvenile Myoclonic Epilepsy

    Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.[oadoi.org]

    Missing: Hearing Loss Initially Affects Mid and High Frequencies
  • Autosomal-Recessive Nonsyndromic Hearing Loss and Deafness DFNB61

    Seco CZ , Oonk AM , Dominguez-Ruiz M et al : Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 .[nature.com] Schraders M , Ruiz-Palmero L , Kalay E et al : Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment .[nature.com]

    Missing: Hearing Loss Initially Affects Mid and High Frequencies

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