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GENATLAS PHENOTYPE
last update : 14/10/2008
Symbol DFNA1
Location 5q31
HGNC id 2782
Name neurosensory deafness 1
Other name(s)
  • deafness,autosomal dominant 1
  • deafness, progressive low-tone
  • Konigsmark syndrome
    • Corresponding gene DIAPH1
    related resource Genetics hearing impairment
    Other symbol(s) LFHL1
    Main clinical features
  • non syndromic, postlingual, progressive with delayed onset, low frequency hearing loss 1 (Costa Rican family)
    • Genetic determination autosomal dominant
    Function/system disorder ear
    Type disease
    Gene product
    Name Drosophila diaphanous homolog (DIAPH1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   unknown a single nucleotide substitution in a splice donor, leading to a four-base pair insertion
    Remark(s)