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1,460 Possible Causes for Usher Syndromes

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  • Retinitis Pigmentosa

    We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2).[] Retinal phenotype was compared with phenotype of 17 patients with Usher syndrome type 1.[] Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12).[]

  • Leber Hereditary Optic Neuropathy plus Disease

    Stargardt-Krankheit Usher-Syndrom Usher-Syndrom Typ 1 Usher-Syndrom Typ 2 Usher-Syndrom Typ 3 Vaskulopathie, zerebro-retinale Zapfen-Stäbchen-Dystrophie Zapfendystrophie[] Sehnerv-Hypoplasie, isolierte Sehnerv-Hypoplasie, syndromale Sehnervödem-Splenomegalie-Syndrom Septo-optische Dysplasie-Spektrum Sorsby-Fundusdystrophie, pseudoinflammatorische[] Retinitis pigmentosa, syndromale Retinitis punctata albescens Retinopathie, gefleckte, familiäre Form Retinopathie, hereditäre vaskuläre Retinoschisis, X-chromosomale Revesz-Syndrom[]

  • Infantile Convulsions and Choreoathetosis

    Switch to table view Most Common: Hearing Loss (D034381) , Deafness (D003638) , Sensorineural HL (D006319) , Waardenburg Syndrome , Usher Syndromes[]

  • Dyschromatosis Universalis Hereditaria 1

    Switch to table view Most Common: Hearing Loss (D034381) , Deafness (D003638) , Sensorineural HL (D006319) , Waardenburg Syndrome , Usher Syndromes[]

  • Posterior Subcapsular Cataract

    There are 3 clinical types of Usher syndrome: USH1, USH2 and USH3. It shows a prevalence of 2-6/100,000.[] syndrome, and choroideremia.[] Discusión: Usher Syndrome is a genetically heterogeneous condition associating retinitis pigmentosa and deafness.[]

  • Usher Syndrome Type 3B

    Types of Usher Syndrome There are three types of Usher syndrome.[] SYNDROME, TYPE IIIB USHER SYNDROME, TYPE IJ USHER SYNDROME, TYPE IK Usher syndrome, type 1 Usher Syndrome, Type 1A Usher syndrome, type 1B Usher syndrome, type 1B Usher syndrome[] Support for Usher syndrome There is no cure for Usher syndrome.[]

  • Bardet-Biedl Syndrome 2

    Forms of RP and other inherited orphan retinal diseases include Usher syndrome, Stargardt's disease, Leber's congenital amaurosis, rod-cone disease, Bardet-Biedl syndrome[] Some examples of RP and related diseases: Usher syndrome Leber's congenital amaurosis (LCA) Rod-cone disease Bardet-Biedl syndrome CMV retinitis.[] Center for Fragilt X Center for PKU Center for Rett syndrom Forskning Synshandicap Øjenmalformationer og øjenudvikling Aniridi USHER syndrom Oculocutaneous albinism (OCA)[]

  • Axenfeld-Rieger Syndrome Type 3

    Included are common disorders such as hearing loss, cleft lip and palate, and thyroid cancers as well as further chapters on rare disorders such as Usher syndrome, neurofibromatosis[]

  • Amelogenesis imperfecta Type Hypomaturation

    Sotos syndrome temtamy preaxial brachydactyly syndrome thalassemia thiamine-responsive megaloblastic anemia syndrome triple-A syndrome urofacial syndrome Usher syndrome UV-sensitive[] […] cell-negative, B cell-negative, NK cell-positive sickle cell anemia sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Sjogren-Larsson syndrome[]

  • Anotia

    Usher syndrome, 5. Branchio-oto-renal syndrome, 6. Pendred syndrome, 7. CHARGE Association, 8. Neurofibromatosis type II, 9. Mitochondrial disorders, 10.[] Not every patient who has the combination of retinitis pigmentosa and sensorineural hearing loss has Usher syndrome ... 5) Branchio-Oto-Renal Syndrome (BOR) ...[] Hearing loss is sensorineural and may be progressive ... 4) Usher Syndrome ... Is the most common eye/ear disorder with a reported prevalence of 3.5 per 10,000 ...[]

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