Disorder Major Features Renal anomaly Etiolog Genes Microcephaly, hiatus Microcephaly, seizures, Nephrotic syndrome, micro- AR (251300) hernia and psychomotor retardation, cystic dysplasia, focal nephrotic syndrome eye anomalies glomerulosclerosis, diffuse (Galloway-Mowat) mesangial sclerosis MURCS association Mullerian duct aplasia, renal Renal agenesis, dysplasia, or Sporadic (601076) agenesis, absent vagina ectopia ureteral and urethral uterus cervicothoracic anomalies somitic vertebral anomalies, short stature Multinodular goiter, Multinodular goiter, Renal dysplasia, polycystic AD(138790) cystic renal triphalangeal thumbs, kidney anomalies disease, and digital preaxial polydactyly of feet anoma lies Neural tube defects Meningomyelocele, Renal agenesis, hypoplasia, Heterogeneous anencephaly, encepha- dysplasia, or fusion, ureteral multifactorial locale, vertebral anomalies anomalies. anomalies of schists association midline anomalies Renal hamartomas Fetal macrosomia, hypotonia, Bilateral renal hamartomas, AR (267000) nephroblastoma. psychomotor retardation, nephroblastomatosis, Wilms sis, and fetal seration of upper alveolar tumor gigantism(Perlman) ridge, can be perinatal lethal