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GENATLAS PHENOTYPE
last update : 15/11/2005
Symbol CAMR
Location Xp11.22
Name choreoathetosis, abnormal behavior, and mental retardation
Other name(s) mental retardation, X-linked, syndromic 10
Corresponding gene HSD17B10
Other symbol(s) CABMR, MRXS10
Main clinical features
  • mild mental retardation with choreoathetosis and abnormal behavior
  • characterized by involuntary, irregular, purposeless, nonrhythmic, abrupt, rapid movements flowing from one part of the body to another (chorea) that blend with slow, writhing, continuous movements (athetosis), associated to aggressiveness and agitation
  • Genetic determination sex linked
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)