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44 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Neurologic Manifestation, 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] manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia.[orpha.net] 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]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] ., skin rash, alopecia, conjunctivitis) Neurologic & cutaneous manifestations resolve w/biotin treatment; hearing loss & optic atrophy are usually irreversible When a child[ncbi.nlm.nih.gov] 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]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] Kosofsky, Weill-Cornell University Medical Center · Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University[books.google.com] The neurological manifestations may not respond to a gluten free diet.[neuroweb.us]

  • AMACR Deficiency

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation.[emedicine.medscape.com] 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]

  • 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] Non-neurological manifestations include dysmorphic features, liver dysfunction and skeletal abnormalities.[neuropathology-web.org] 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]

  • 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] Manifestations Nervous System Diseases Blindness Vision Disorders Abnormalities, Multiple Congenital Abnormalities Signs and Symptoms[clinicaltrials.gov] 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]

  • 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] Neurologic manifestations. Neurologic evaluation with EEG to examine for seizures.[ncbi.nlm.nih.gov] Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome.[ijem.in]

  • Autosomal Recessive Deafness 22

    […] born with profound congenital deafness.[vdocuments.site] ., skin rash, alopecia, conjunctivitis) Neurologic & cutaneous manifestations resolve w/biotin treatment; hearing loss & optic atrophy are usually irreversible When a child[ncbi.nlm.nih.gov] , autosomal dominant 23 22 Retinitis pigmentosa, autosomal recessive 43 41 Retinitis pigmentosa, X-linked 5 2 Syndromic/systemic diseases with retinopathy, autosomal dominant[sph.uth.edu]

  • Autosomal Recessive Deafness 23

    […] born with profound congenital deafness.[vdocuments.site] […] or systemic manifestation Rare dystonia Rare genetic movement disorder Rare genetic neurological disorder Rare hereditary ataxia Rare movement disorder Rare neurodegenerative[se-atlas.de] , autosomal dominant 23 22 Retinitis pigmentosa, autosomal recessive 43 41 Retinitis pigmentosa, X-linked 5 2 Syndromic/systemic diseases with retinopathy, autosomal dominant[sph.uth.edu]

  • 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] It can be the first and only manifestation of the disease for decades. Its association with neuropathy suggests the diagnosis.[ojrd.biomedcentral.com] 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]

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