[clinical features & electroencephalographic findings of 2 patients affected by a previously unreported CDKL5 mutation; both manifest Hanefeld variant Rett syndrome & had early-onset seizures, hand stereotypies, congenital psychomotor delay & hypotonia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE