IllnessHearing loss, sensorineural, type 1

NGS +

Sanger

includes also Orphanet# 90636

Perceptive deafness (neurosensory origin associated with the inner ear) rather than conductive deafness (anomalies in the amplification of sound waves between the middle ear - tympanum and auditory ossicles + the outer ear); AD forms are very early onset + bilateral hearing loss with varying degrees of severity (ranging from mild to profound); in developed counties, 60-80% of early-onset hearing loss are genetic in origin

• Alias: AD isolated neurosensory deafness type DFNA
• Alias: AD isolated neurosensory hearing loss type DFNA
• Alias: AD isolated sensorineural deafness type DFNA
• Alias: AD isolated sensorineural hearing loss type DFNA
• Alias: AD non-syndromic neurosensory deafness type DFNA
• Alias: AD non-syndromic neurosensory hearing loss type DFNA
• Alias: AD non-syndromic sensorineural hearing loss type DFNA
• Alias: AR isolated neurosensory deafness type DFNB
• Alias: AR isolated sensorineural deafness type DFNB
• Alias: AR non-syndromic neurosensory deafness type DFNB
• Alias: AR non-syndromic sensorineural deafness type DFNB
• Alias: Deafness, hearing impairment
• Alias: Nicht-syndromale Hörstörung
• Alias: Schwerhörigkeit, Hörverlust, Taubheit
• Allelic: Bart-Pumphrey syndrome (GJB2)
• Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
• Allelic: Hystrix-like ichthyosis with deafness (GJB2)
• Allelic: Keratitis-ichthyosis-deafness syndrome (GJB2)
• Allelic: Keratoderma, palmoplantar, with deafness (GJB2)
• Allelic: Vohwinkel syndrome (GJB2)
• Deafness, AD (GJB2)
• Deafness, AD 3B (GJB6)
• Deafness, AR 1A (GJB2)
• Deafness, AR 1B (GJB6)
• Deafness, digenic GJB2/GJB6 (GJB6)