Short rib polydactyly, Phocomelia, metaphyseal dysplasia; Renal dysplasia, multicystic kidneys AR(263530) type I (Saldino- defective ossification of Noonan calvarium, vertebrae, pelvis, carpal and tarsal bones cardiac, Gl and Gu anomalies billary dysgenesis pancreatic dysplasia, lethal Trisomy 9 Potter sequence, dleft palate Renal dysplasia, multicystic kidneys Chromosomal joint immobility, billary dysgenesis, pancreatic dysplasia Tuberous sderosis Hypopigmented macules, adenoma Renal angiomyolipomas (70%), renal AD (191100) TSC1 TSC2 sebaceum. retinal and epithelial cysts (20-30%) braintumor, seizures, mental oncocytoma, renal cell carcinoma retardation polycystic kidney disease Von Hippel-Lindau Retinal angiomas, cerebellar Renal cysts, renal cell carcinoma(40%), AD(19300)VHL hemangioblastomas bladder papillomas Zellweger syndrome Death in early infancy, hypotonia, Kidney with subcortical cysts, AR21410x1-35610 seizures, biliary dysgenesis, hydroureter, multicystic kidney 121416 peroxisomal enzyme deficiency 1926 of dihydrohydroxyacetonephos phate(DHAP) acyltransferase