Number of the records: 1  

Rettov syndróm

  1. Record numberd015518
    Date06.06.2025
    TypeM - MESH
    Topical termRettov syndróm
    Other termEnglish (Pseudonym) Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
    English (Pseudonym) Cerebroatrophic Hyperammonemia
    Slovak (Pseudonym) syndróm autizmus-demencia-ataxia-strata cieleného používania rúk
    Slovak (Pseudonym) hyperamoniémia cerebroatrofická
    See also(Skutočné meno) postihnutie intelektuálne
    (Later heading) metyl-CpG-viažuci proteín 2
    UDCC10.597.606.360.455.937C16.320.322.500.937C16.320.400.525.937
    NoteAn 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)
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Number of the records: 1  

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