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syndróm trizómie 13

  1. Subject h.syndróm trizómie 13
    Subject h.Trisomy 13 Syndrome
    Entry termssyndróm trizómie 13. chromozómu
    Bartholinov-Patauov syndróm
    duplikácia 13. chromozómu
    zdvojenie 13. chromozómu
    syndróm kompletnej trizómie 13
    syndróm mozaikovej trizómie 13
    syndróm mozaikovej formy trizómie 13
    Patauov syndróm
    trizómia 13
    syndrómy trizómie 13
    Scope note in EnglishA chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.
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Number of the records: 1  

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