" /> Rett syndrome - CISMeF





Preferred Label : Rett syndrome;

Definition : An 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) [MeSH];

UMLS CUI (RADLEX) : C0035372;

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An 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) [MeSH]

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27/07/2025


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