Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000401:mortality; D002972:Cleft Palate / Q000235:genetics; D003878:Dermatoglyphics; D004423:Ear / Q000002:abnormalities; D005149:Facial Expression; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D008297:Male; D009048:Motor Skills; D014517:Ureteral Obstruction / Q000151:congenital*; D014609:Uvula / Q000002:abnormalities*; D014831:Voice