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Walkerov-Warburgov syndróm

  1. Subject h.Walkerov-Warburgov syndróm
    Subject h.Walker-Warburg Syndrome
    Entry termsalfa-dystroglykanopatie
    Fukuyamov typ cerebromuskulárnej dystrofie
    Chemkeho syndróm
    Fukuyamov typ kongenitálnej muskulárnej dystrofie
    Fukuyamov typ vrodenej svalovej dystrofie
    choroba s postihnutím svalov, očí a mozgu
    Warburgov syndróm
    English X referencesCerebromuscular Dystrophy, Fukuyama Type
    Chemke Syndrome
    Fukuyama Congenital Muscular Dystrophy
    Fukuyama Type Congenital Muscular Dystrophy
    Muscle-Eye-Brain Disease
    Muscular Dystrophy, Congenital, Fukuyama Type
    Warburg Syndrome
    alpha-Dystroglycanopathies
    Scope note in EnglishRare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
    See also reference (FX) in Slovak dystroglykány
    See also reference (FX) in English Dystroglycans
    Links (1) - ARTICLES
    (1) - MeSH descriptor
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Number of the records: 1  

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