Variability of the de Lange syndrome: report of 3 cases and genetic analysis of 54 families.
D000015:Abnormalities, Multiple; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D006628:Hirsutism; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D007621:Karyotyping; D008297:Male