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48 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Cerebellar Ataxia, Retinitis Pigmentosa

  • 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] Major diagnostic clinical findings include retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, increased cerebrospinal fluid protein without pleocytosis, nerve[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]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    (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] Tags: acute onset cerebellar ataxia , autosomal recessive cerebellar ataxia , cerebellar ataxia , cerebellar dysfunction , Friedreich's ataxia , neurodegenerative diseases[blogs.nejm.org] pigmentosa, and cataract AR 16 20 ACO2 Optic atrophy, Infantile cerebellar-retinal degeneration AR 16 15 ADCK3 Coenzyme Q10 deficiency, Progressive cerebellar ataxia and[blueprintgenetics.com]

  • Infantile 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] Atypical presentations (visual and hearing loss with preservation of intellect and cerebellar ataxia with/without peripheral neuropathy) have been described.[orpha.net] Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging[ncbi.nlm.nih.gov]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset.[ncbi.nlm.nih.gov] We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjögren syndrome, an autosomal recessive cerebellar ataxia complicated by[doi.org] Learn more Other less relevant matches: Low match RETINITIS PIGMENTOSA Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors[mendelian.co]

  • AMACR Deficiency

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology. 2011 May 17;76(20):1768-70. doi: 10.1212/WNL.0b013e31821a4484.[ghr.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 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] Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical[omim.org] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] ataxia, and elevated protein levels in the cerebrospinal fluid without an increase in the number of cells. 50 It is caused by defective phytanic acid metabolism, and as such[nature.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]

  • Usher Syndrome Type 1K

    Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov] Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] ataxia and skeletal dysplasia Cone-rod dystrophy 3 Lattice corneal dystrophy type 3A Eales disease Spinocerebellar ataxia autosomal recessive 5 Methylmalonic acidemia with[checkrare.com]

  • Familial Progressive Vestibulocochlear Dysfunction

    Sensorineural hearing loss is usually congenital, severe to profound and non-progressive. However, hearing loss may be later onset and progressive in some patients.[asperbio.com] Smeets CJ and Verbeek DS (2014) Cerebellar ataxia and functional genomics: identifying the routes to cerebellar neurodegeneration.[els.net] About 1 in 4 with retinitis pigmentosa has Usher's syndrome. The other major cause of deafness and blindness is congenital rubella.[patient.info]

  • 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] ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebroretinal vasculopathy Choroideremia Coloboma of macula Coloboma of macula-brachydactyly[se-atlas.de] Usher syndrome - sensorineural hearing loss and retinitis pigmentosa.[medical-dictionary.thefreedictionary.com]

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