. . . . . . . . . . . . "[Phenotypically, he presents congenital heart disease, hypertelorism, ptosis, epicanthus, blepharophimosis, strabismus, nystagmus, synophrys, low-set ears, frequent infections, epilepsy (abnormal EEG and grand mal seizures), `rocker bottom` feet, flat occiput and muscular hypotonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:38:01+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .