| 单词 | Hyperammonemias,Cerebroatrophic |
| 释义 | Hyperammonemias,Cerebroatrophic《英文msh词典》Hyperammonemias,Cerebroatrophic [入口词] Hyperammonemias,Cerebroatrophic [主题词] Rett Syndrome [英文释义] An inherited disorder that is associated with X-linked transmission and may be lethal in utero to hemizygous males. Clinically,birth and development in affected females is normal until the age of 6-25 months,when progressive loss of voluntary control of hand movements and communication skills,ataxia,stereotypic hand movements,seizures,autistic behavior,intermittent hyperventilation,and hyperammonemia appear. (From Menkes,Textbook of Child Neurology,5th ed,p199) |
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