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54 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Neurological Disorder, Retinitis Pigmentosa

  • AMACR Deficiency

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] Infants present with severe fat and fat-soluble vitamin deficiencies, hematochezia and mild cholestasis, whereas adults present with various neurological disorders.[orpha.net] 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]

  • 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] The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to ARD in its laboratories at the National Institutes of Health (NIH), and also[web.archive.org]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] He has been a member of numerous editorial boards including Neurology, Movement Disorders, Journal of Neurology Neurosurgery and Psychiatry, Parkinsonism and Related Disorders[books.google.com] Kosofsky, Weill-Cornell University Medical Center · Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University[books.google.com]

  • Hereditary Hyperekplexia

    Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized[amp.pharm.mssm.edu] Abstract We investigated the molecular basis of hyperekplexia (STHE), an inherited neurological disorder characterised by neonatal hypertonia and an exaggerated startle response[ncbi.nlm.nih.gov] pigmentosa-1) RP2 (Retinitis pigmentosa-2) RP9 (Retinitis pigmentosa-9) RPE65 (Leber congenital amaurosis 2) RPGR (Cone-rod dystrophy-1) RPGRIP1 (Cone-rod dystrophy 13) RPGRIP1L[en.praenatal-medizin.de]

  • 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] Over a period of 10 years he has diagnosed and managed more than 7,000 children with various metabolic, genetic and neurological disorders.[docplayer.net] 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] While the FRα defect is a disorder of brain-specific folate transport accompanied with cerebral folate deficiency (CFD) causing progressive neurological symptoms, LAMM syndrome[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]

  • 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] Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum[ncbi.nlm.nih.gov] 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 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] Primary Sidebar Eye Diseases Chronic Infantile Neurological Cutaneous Articular syndrome Congenital disorders of glycosylation Ayazi syndrome Mevalonic aciduria Neurofibromatosis[checkrare.com] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov]

  • 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] It leads to progressive neurologic disorders, adrenal insufficiency and death.[richardsonthebrain.com] About 1 in 4 with retinitis pigmentosa has Usher's syndrome. The other major cause of deafness and blindness is congenital rubella.[patient.info]

  • 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] In addition numerous phenocopies occur, caused by a variety of drugs, trauma, infections and numerous neurological disorders.[disorders.eyes.arizona.edu] 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]

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