title: A new familial malformation syndrome.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012640:Seizures / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic