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

  • AMACR Deficiency

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] We have identified a further patient with clinical features of a relapsing encephalopathy, seizures and cognitive decline over a 40 year period.[ncbi.nlm.nih.gov] In general, patients display neurological sequelae, including encephalopathy, peripheral neuropathy; cholestasis has also been observed.[symptoma.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] We report the clinical and neurophysiologic vignette of a patient with a self-limiting, possibly inflammatory brainstem encephalopathy.[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]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] Chorea: Huntington disease, HD; DRPLA; SCA 17; Ataxia telangiectasia, AT; SCAs. 1,2,3 Myoclonus and cognitive impairment: hepatic encephalopathy; CJD; anti-GAD syndrome; POLG[practicalneurology.com] Chronic pancreatitis may precede the onset of encephalopathy.[neuroweb.us]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] The MEGDEL (3-methylglutaconic aciduria, dystonia-deafness, encephalopathy, Leigh-like) syndrome is due to motations in the SERAC1 gene, which encodes a protein with a serine-lipase[dizziness-and-balance.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

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Marked liver disease or impairment of function, including cirrhosis because of the risk of development of hepatic encephalopathy 4.[wikivisually.com] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[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] […] muscles and exercise intolerance Galactosemia 14 GALT Hepatomegaly, cataracts, and intellectual disability Congenital disorder of glycosylation, type 1A 15, 16 PMM2 Neonatal encephalopathy[endocrine.gr] 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]

  • 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] […] case after considering these personal communication scenarios, and the fact that patients with IRD typically live beyond the age of 10 years but eventually die of severe encephalopathy[pediatrics.aappublications.org] 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 23

    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] 2 Encephalopathy, neonatal severe, due to MECP2 mutations Enlarged vestibular aqueduct syndrome Familial Mediterranean fever Familial cancer of breast Familial hypercholesterolemia[enlis.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]

  • Alstrom Syndrome

    Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome.[ijem.in] Hepatic encephalopathy is a brain disorder that occurs in some individuals with chronic liver disease.[rarediseases.org] 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]

  • Infantile Refsum Disease

    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] Haug Browse recently published Learning/CME Learning/CME View all learning/CME CME Case 3-2019: A 70-Year-Old Woman with Fever, Headache, and Progressive Encephalopathy Caplacizumab[nejm.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]

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