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59 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Retinitis Pigmentosa

  • Usher Syndrome Type 1H

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov] OMIM : 58 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa[malacards.org]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] LXXIX The Association of Nerve Deafness and Retinitis Pigmentosa Interval Report . Annals of Otology, Rhinology & Laryngology, Vol. 69, Issue. 4, p. 1044.[journals.cambridge.org] Some families with atypical late onset retinitis pigmentosa and borderline vestibular dysfunction.[bmb.oxfordjournals.org]

  • 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] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[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]

  • Usher Syndrome Type 1

    , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] In view of the combination of profound hearing loss, vestibular dysfunction, and retinitis pigmentosa in the patients, we classified the disease as USH1.[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]

  • AMACR Deficiency

    (See also the GeneReview: Retinitis Pigmentosa Overview.) 2b(iii) Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type 1 is characterized by a congenital[refsumdisease.org] Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital , bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov] Retinal changes have been reported in five patients and vary from retinal pigmentary epithelial changes to retinitis pigmentosa [ 7 , 9 , 11 , 12 , 14 ].[ojrd.biomedcentral.com]

  • Usher Syndrome Type 1D

    Usher syndrome - sensorineural hearing loss and retinitis pigmentosa.[medical-dictionary.thefreedictionary.com] 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]

  • Usher Syndrome Type 1J

    Duane retraction syndrome has earlier been reported with various conditions such as retinitis pigmentosa, Bardet Biedl syndrome with atypical retinitis pigmentosa, pseudoretinitis[healio.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] 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]

  • Refsum Disease

    Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations[ncbi.nlm.nih.gov] Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital, bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov] […] condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations.[doi.org]

  • Retinitis Pigmentosa 23

    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] RP2 Retinitis pigmentosa 2Pathogenic (Aug 1, 2001) no assertion criteria provided RP2 Retinitis pigmentosa 2Pathogenic (Aug 1, 1998) no assertion criteria provided GRCh37:[ncbi.nlm.nih.gov] MalaCards based summary : Retinitis Pigmentosa 23, also known as rp23 , is related to retinitis pigmentosa and leber congenital amaurosis 4 .[malacards.org]

  • Usher Syndrome Type 3B

    USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness.[uniprot.org] 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] 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]

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