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45 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Profound Sensorineural Deafness

  • Usher Syndrome Type 1K

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

  • Tietz Syndrome

    From Wikidata Jump to navigation Jump to search monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like[wikidata.org] Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal.[orpha.net] From Wikidata Jump to navigation Jump to search monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like[wikidata.org]

  • Autosomal Recessive Deafness 24

    […] born with profound congenital deafness.[vdocuments.site] Affiliated tissues include brain, and related phenotype is profound sensorineural hearing impairment.[malacards.org] Ben-Yosef et al. (2001) identified mutations in 4 families from Pakistan with congenital profound nonsyndromic sensorineural deafness in 159 families studied.[genome.jp]

  • Usher Syndrome Type 1J

    Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness[genecards.org] Usher syndrome type I should be suspected in individuals with: Congenital (i.e., prelingual) profound bilateral sensorineural hearing loss No significant vestibular responses[centogene.com]

  • Usher Syndrome Type 1

    , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] A 10-year-old boy whose speech was hardly intelligible had been diagnosed as having profound sensorineural deafness (120-dB loss) at the age of 20 months.[jamanetwork.com] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] INTRODUCTION: Children with severe to profound sensorineural deafness can acquire vocabulary and syntactic structures to communicate by oral language, after cochlear implant[ncbi.nlm.nih.gov] Deafness may be conductive, sensorineural or mixed.[bmb.oxfordjournals.org]

  • Usher Syndrome Type 1D

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] USH1 is characterised by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness[medical-dictionary.thefreedictionary.com] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

  • Autosomal Recessive Deafness 38

    […] born with profound congenital deafness.[vdocuments.site] Usher syndrome type I caused by mutations in USH1C is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and[antibodies-online.com] USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness[genecards.org]

  • Deafness

    Mumps (Epidemic parotitis) may result in profound sensorineural hearing loss (90 dB or more), unilateral (one ear) or bilateral (both ears). congenital rubella (also called[en.wikipedia.org] A 6-month-old male patient presented with bilateral profound sensorineural hearing loss and was confirmed to have X-linked deafness secondary to POU3F4 gene mutation.[ncbi.nlm.nih.gov] sensorineural hearing loss in one ear and normal cochlear function in the contralateral ear (single-sided deafness [SSD]).[ncbi.nlm.nih.gov]

  • Jervell-Lange-Nielsen Syndrome Type 2

    The second symptom is a congenital bilateral profound sensorineural hearing loss.[hearinghealthmatters.org] OBJECTIVE: Jervell and Lange-Nielsen syndrome (JLNS) is a recessively inherited long QT syndrome (LQTS) characterised by profound sensorineural deafness and predisposition[ncbi.nlm.nih.gov] It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an[ncbi.nlm.nih.gov]

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