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disease: Deafness, autosomal recessive 48

id1717
nameDeafness, autosomal recessive 48
descriptionDFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012).
variant-disease NM_006383.4(CIB2):c.223G>A (p.Val75Met) AND Deafness, autosomal recessive 48
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) AND Deafness, autosomal recessive 48
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) AND Deafness, autosomal recessive 48
NM_006383.4(CIB2):c.368T>C (p.Ile123Thr) AND Deafness, autosomal recessive 48