Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D007830:Larynx / Q000002:abnormalities*; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010614:Pharynx / Q000002:abnormalities*; D010641:Phenotype; D012600:Scoliosis / Q000235:genetics*; D013577:Syndrome