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906 Possible Causes for LOKEN SENIOR, Syndrome

  • Senior Loken Syndrome

    The diagnosis of Senior Loken syndrome is based on the clinical presentation of retinopathy and chronic interstitial nephritis.[] Abstract Senior-Loken syndrome is a rare syndrome of retinopathy and nephronophthisis.[] Prevention - Senior Loken Syndrome Not supplied. Diagnosis - Senior Loken Syndrome Not supplied.[]

  • BOD Syndrome

    (Also known as/Synonyms) Brachymorphism Onychodysplasia Dysphalangism Syndrome Brachymorphism-Onychodysplasia-Dysphalangism Syndrome What is BOD Syndrome?[] MalaCards based summary : Brachymorphism-Onychodysplasia-Dysphalangism Syndrome, also known as bod syndrome , is related to senior-loken syndrome 1 and senior-løken syndrome[] […] syndrome' runs the risk of confusion with the Senior-Loken syndrome ({266900}). {1:Brautbar et al. (2009)} described a 7-year-old girl with hypoplastic nails, especially[]

  • Aniridia

    A novel association, that of bilateral Duane syndrome with bilateral aniridia, is the subject of this report.[] Senior-Loken Syndrome NGS panel is now available.[] Description Aniridia syndrome is a genetic congenital eye and medical syndrome usually detected at birth.[]

  • Liver Fibrosis

    BACKGROUND: In neonates, Down syndrome is rarely accompanied by the leukemoid reaction called transient myeloproliferative disorder.[] Abstract We present two sisters with nephronophthisis and pigmentary retinopathy (Senior-Loken syndrome) and associated liver fibrosis.[] ERG may identify the carrier state of the Senior-Boichio syndrome.[]

  • Neurodegenerative Disorder

    This case further underlines the clinical phenotype of Vici syndrome as an early onset neurodegenerative disorder with hypopimentation, recurrent infections and muscle findings[] This case is similar to Senior-Loken syndrome, but distinct in terms of the severe and progressive neurological symptoms, suggestive of a new malignant syndrome with some[] The risk of a defined neurodegenerative syndrome from the time of IRBD diagnosis was 33.1% at five years, 75.7% at ten years, and 90.9% at 14 years.[]

  • Alstrom Syndrome

    Alstrom syndrome is a rare genetic disorder with an autosomal recessive pattern of inheritance.[] NL] - [PL] - [PT] - [SE] Meckel syndrome (ciliopathies) - [DE] - [EN] - [ES] - [FR] - [IT] - [NL] - [PL] Nephronophthisis - [DE] - [EN] - [ES] - [FR] - [IT] - [NL] - [PT] Senior-Loken[] The life span of patients with Alström Syndrome rarely exceeds 40 years.[]

  • Congenital Reticular Ichthyosiform Erythroderma

    2E Richieri Costa-Pereira syndrome Senior-Loken syndrome Well-differentiated liposarcoma Aneurysm - osteoarthritis syndrome Familial thoracic aortic aneurysm and aortic dissection[] .: p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split handfoot malformation suggest a genotype-phenotype correlation. ‏[] […] polydactyly - hydrocephalus Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Opsismodysplasia Pseudohypoaldosteronism type 2E Richieri Costa-Pereira syndrome Senior-Loken[]

  • Superficial Epidermolytic Schthyosis

    […] with juvenile myelomonocytic leukemia Opsismodysplasia Pseudohypoaldosteronism type 2E Richieri Costa-Pereira syndrome Senior-Loken syndrome Well-differentiated liposarcoma[] When AR, this can be localised, as in acral peeling skin syndrome (APSS); or generalised, as in peeling skin syndrome (PSS) types A (non-inflammatory) and B (inflammatory)[] Peel SAHA-Syndrom SAPHO-Syndrom SCIT SIT SLIT STORCH-Syndrom SUP Salmonellen-Infektion Sarkoidose Satoyoshi-Syndrom Schafspocken Schamberg, Morbus Scharlach Schießscheibenform[]

  • Nephronophthisis 7

    First, it is to start a patient/family support group for those dealing with Nephronophthisis and Senior-Loken Syndrome.[] INTERNET Senior-Løken syndrome. Genetics Home Reference (GHR). Last Update May 10, 2016; . Accessed May 18, 2016. Senior-Loken syndrome.[] […] syndrome Senior-Loken Syndrome 3 Senior-Loken Syndrome 4 Senior-Loken Syndrome 5 Senior-Loken Syndrome 6 Senior-Loken Syndrome 7 Sensenbrenner syndrome severe combined immunodeficiency[]

  • Congenital Hepatic Fibrosis

    syndrome, Joubert syndrome AR 84 100 CC2D2A COACH syndrome, Joubert syndrome, Meckel syndrome AR 75 90 CEP41 Joubert syndrome AR/Digenic 7 10 CEP164 Nephronophthisis AR 8[] OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia[] 2q13 ( NPHP1 gene); 12q21.32 ( CEP290 or NPHP6 gene); 8q21 ( TMEM67 gene); 16q12.2 ( RPGRIP1L gene) Cerebellar vermis hypoplasia retinitis pigmentosa, nystagmus, ataxia Senior-Loken[]

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