Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.
D000015:Abnormalities, Multiple / Q000473:pathology*; D003964:Diaphragm / Q000002:abnormalities; D004194:Disease; D005145:Face / Q000002:abnormalities; D005804:Genes, Lethal; D006801:Humans; D017880:Limb Deformities, Congenital; D013577:Syndrome