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60 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Neuropathy, Retinitis Pigmentosa

  • AMACR Deficiency

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] 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] The clinical picture admittedly resembles that of Refsum disease with sensorimotor neuropathy.[symptoma.com]

  • 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] 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] […] type 4 Hereditary motor and sensory neuropathy type 4 HMSN 4 Hypertrophic neuropathy of Refsum Phytanic-CoA hydroxylase deficiency edit English adult Refsum disease Human[wikidata.org]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] Electrophysiologic study and nerve biopsy showed axonal neuropathy.[ashg.org] Acute motor axonal neuropathy Acute multifocal placoid pigment epitheliopathy Acquired pituitary hormone deficiency Addison disease Adie Syndrome Adiposis dolorosa ADNP-related[sanfordresearch.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] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov] Clinical findings for a group of infants and young children with auditory neuropathy. Ear and Hearing, 20, 238—252. ‎ Page 81 - Kimura, J. (1989).[books.google.com]

  • 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] 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] IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor[ncbi.nlm.nih.gov]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] 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] , autosomal recessive demyelinating neuropathy, autosomal dominant hereditary neuropathies type I and II, Goldenhar Syndrome, Jervell and Lange-Nielsen Syndrome, X-linked[symptoma.com]

  • 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] 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] Congenital cataracts, facial dysmorphism, and neuropathy syndrome. Pediatr Neurol. 2011 Sep;45(3):206-8.[disorders.eyes.arizona.edu]

  • Usher Syndrome Type 1H

    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] (DHH) DHH Rein motorische Neuropathie 1 Neuropathie, distal kongenital (AR, DSMA4) (PLEKHG5) PLEKHG5 2 Neuropathie, distal betont, rein motorisch, Typ 2A (AD, HMN2A) (HSPB8[docplayer.net]

  • Usher Syndrome Type 1

    , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.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] ., 1997, Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing[books.google.com]

  • Autosomal Recessive Deafness 23

    , 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] […] born with profound congenital deafness.[vdocuments.site] Mutations in NDRG1 underlie the autosomal recessive hereditary motor and sensory neuropathy-Lom (Kalaydjieva et al., 2000).[medicine.umich.edu]

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