Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 28-11-2012
Symbol DFNB70
Location 2p16.1
Name deafness, autosomal recessive 70
Corresponding gene PNPT1
Main clinical features
  • nonsyndromic severe hearing impairment with onset in early childhood
  • inability to acquire normal speech.
  • Genetic determination autosomal recessive
    Function/system disorder ear
    Type disease
    Remark(s)
  • p.Glu475Gly alteration is predicted to cause a disturbance of the quaternary structure of the PNPT1 trimer (PMID: 23084290))