" /> Mental Retardation, Autosomal Dominant 40 - CISMeF





Preferred Label : Mental Retardation, Autosomal Dominant 40;

NCIt synonyms : MRD40;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CHAMP1 gene, encoding chromosome alignment-maintaining phosphoprotein 1. It is characterized by moderate to severe intellectual disability with poor speech acquisition. Variable dysmorphic features may be present as well.;

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30/07/2025


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