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14 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Posterior Subcapsular Cataract, Retinitis Pigmentosa

  • 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] subcapsular cataracts characterized by yellowish crystalline changes in the visual axis of the posterior lens cortex Dust-like particles in the vitreous Hyaline bodies of[centogene.com] 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]

  • Retinitis pigmentosa 40

    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] subcapsular cataract.[checkorphan.org] Abstract Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is[ncbi.nlm.nih.gov]

  • 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] The patient had small globes, bilateral posterior subcapsular cataracts, lacy vacuolation of the iris, ciliary process hyalinisation, unilateral asteroid hyalosis, total absence[ncbi.nlm.nih.gov] Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome.[ijem.in]

  • 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] The frequency of posterior subcapsular cataract in the hereditary retinal degenerations. Am J Ophthalmol 1982 ; 93 : 733 –8. Newsome DA , Stark WJ Jr, Maumenee IH.[jmg.bmj.com] Usher syndrome - sensorineural hearing loss and retinitis pigmentosa.[medical-dictionary.thefreedictionary.com]

  • Usher Syndrome Type 3B

    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] The frequency of posterior subcapsular cataract in the hereditary retinal degenerations. Am J Ophthalmol 1982 ; 93 : 733 –8. Newsome DA , Stark WJ Jr, Maumenee IH.[jmg.bmj.com] USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness.[uniprot.org]

  • 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] Cataract formation, particularly posterior subcapsular cataracts, has long been recognized in recipients of SC transplant as one of the most frequent late complications of[bloodjournal.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]

  • Tricho-Retino-Dento-Digital Syndrome

    Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Ears]; Bilateral congenital profound sensorineural hearing loss; [Mouth]; Diastema; [Teeth]; Oligodontia Ehlers-Danlos[findzebra.com] subcapsular cataract (略 PSC) 【後腹膜血腫】*retroperitoneal hematoma ( 腹膜後血腫) 【後彎症】*kyphosis ( 脊椎後彎症、亀背) (喉) 【喉頭炎】*laryngitis 【喉頭下垂症】*laryngoptosis 【喉頭蓋炎】*epiglottitis 【喉頭癌】*laryngeal[medo.jp] Retinitis Pigmentosa 31 4 Retinitis Pigmentosa 33 5 Retinitis Pigmentosa 35 5 Retinitis Pigmentosa 36 4 Retinitis Pigmentosa 37 5 Retinitis Pigmentosa 38 5 Retinitis Pigmentosa[preventiongenetics.com]

  • Usher Syndrome 3A

    , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] The frequency of posterior subcapsular cataract in the hereditary retinal degenerations. Am J Ophthalmol 1982 ; 93 : 733 –8. Newsome DA , Stark WJ Jr, Maumenee IH.[jmg.bmj.com] Definition USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness.[uniprot.org]

  • Metaphyseal Chondrodysplasia - Retinitis pigmentosa Syndrome

    Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs . Ophthalmic Genet. 1999 Jun;20(2):127-31.[disorders.eyes.arizona.edu] 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] subcapsular cataract (略 PSC) 【後腹膜血腫】*retroperitoneal hematoma ( 腹膜後血腫) 【後彎症】*kyphosis ( 脊椎後彎症、亀背) (喉) 【喉頭炎】*laryngitis 【喉頭下垂症】*laryngoptosis 【喉頭蓋炎】*epiglottitis 【喉頭癌】*laryngeal[medo.jp]

  • Cataract - Ataxia - Deafness

    When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com] Cataracts typically present as posterior subcapsular plaque-like opacities ( Figs. 3 and 4 ).[entokey.com] Symptoms - PHARC (Retinitis Pigmentosa, Hearing Loss, Ataxia, Cataract, and Polyneuropathy) Causes - PHARC (Retinitis Pigmentosa, Hearing Loss, Ataxia, Cataract, and Polyneuropathy[checkorphan.org]

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