Number of the records: 1  

Rettov syndróm

  1. Subject h.Rettov syndróm
    Subject h.Rett Syndrome
    Entry termssyndróm autizmus-demencia-ataxia-strata cieleného používania rúk
    hyperamoniémia cerebroatrofická
    English X referencesAutism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
    Cerebroatrophic Hyperammonemia
    Scope note in EnglishAn inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
    See also reference (FX) in Slovak postihnutie intelektuálne
    See also reference (FX) in English Intellectual Disability
    Links (17) - ARTICLES
    (2) - MeSH descriptor
    (5) - CiBaMed
    (3) - BOOKS
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all