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GENATLAS PHENOTYPE
last update : 26/03/2005
Symbol USH1D
Location 10q22.1
Name Usher syndrome type ID
Corresponding gene CDH23
related resource Genetics hearing impairment
Retinal Information Network
Main clinical features
  • characterized by profound congenital neurosensory deafness, constant vestibular dysfunction and retinitis pigmentosa with prepubertal onset, leading to blindness
  • Genetic determination autosomal recessive
    Function/system disorder ear
    eye
    Type disease
    Gene product
    Name cadherin related 23
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    nonsense   absent protein  
    abnormal splicing   abnormal protein/loss of function  
    frameshift deletion abnormal protein/loss of function  
    Remark(s)