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

  • Congenital Deafness

    Congenital deafness is either genetically caused or acquired in utero through maternal lifestyle and/or infection.[symptoma.com] 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] hearing loss ranges from mild to profound hearing loss.[wvdhhr.org]

  • Usher Syndrome Type 1

    الصفحة 108 - Mutation in mitochondrial tRNAIeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. ‏[books.google.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] , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com]

  • 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] Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.'[malacards.org] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov]

  • Refsum Disease

    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] […] diagnostic clinical findings include retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, increased cerebrospinal fluid protein without pleocytosis, nerve deafness[ncbi.nlm.nih.gov] 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]

  • 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] I’m deaf as well. So, I am hosting a deaf social since last year.[deafread.com] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov]

  • 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] الصفحة 108 - Mutation in mitochondrial tRNAIeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. ‏[books.google.com] Usher syndrome - sensorineural hearing loss and retinitis pigmentosa.[medical-dictionary.thefreedictionary.com]

  • Alstrom Syndrome

    Hearing All subjects showed a bilateral symmetrical moderate to profound sensorineural hearing loss. The onset of hearing loss was either congenital or early childhood.[journal.frontiersin.org] It is characterized by retinal pigment degeneration, obesity, sensorineural deafness, non-insulin-dependent diabetes mellitus, progressive chronic nephropathy, cardiomyopathy[ncbi.nlm.nih.gov] Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome.[ijem.in]

  • 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] One mutation in CIB2 is a prevalent cause of deafness DFNB48 in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world.[ncbi.nlm.nih.gov] Duane retraction syndrome has earlier been reported with various conditions such as retinitis pigmentosa, Bardet Biedl syndrome with atypical retinitis pigmentosa, pseudoretinitis[healio.com]

  • Usher Syndrome Type 3B

    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] The other major cause of deafness and blindness is congenital rubella.[patient.info] USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness.[uniprot.org]

  • Usher Syndrome Type 2A

    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] The other major cause of deafness and blindness is congenital rubella.[patient.info] Back to results Usher syndrome type 2A Retinitis pigmentosa 39 (deletion/duplication analysis on USH2A gene) USH2A Request Now Methodology Deletion/duplication analysis by[cgcgenetics.com]

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