Hutterite cerebroos. Short stature with mild Terminal nephrotic syndrome, nephrosis, AR(236450) teonephrodysplasia spondylorhizomelic dysplasia, proteinuria, end stage renal disease failure to grow, severe mental retardation, postnatal microcephaly, seizures Jeune (asphyxiating Small, bell-shaped thorax Renal dysplasia, glomerulonephritis, AR (208500) thoracic dystrophy) pulmonary hypoplasia, juvenile nephrophthisis, stenosis of polydactyly, variable rhizomelic uretero-vesical junction, hydroureter, limb shortening, trident pelvis multicystic kidneys biliary dysgenesis, pancreatic dysplasia, other anomalies Joubert syndrome Cerebellar vermic aplasia Multicystic kidneys AR (213300, INPP5E ataxia. colobomata 243910) Dandy-Walker malformation Meckel-Gruber Occipital encephalocele, polydactyly, Renal dysplasia or hypodysplasia, AR(249000) MKS1 cleft lip/palate, microphthalmia, ureteral hypoplasia or aplasia small or ambiguous genitalia, hypoplastic bladder, urethral brain anomalies, biliary dysgen. agenesis, renal cysts, hydroureter esis and pancreatic dysplasia Multinodular goiter, Multinodular goiter, triphalangeal Renal dysplasia, polycystic kidney AD138790) cystic renal thumbs, preaxial polydactyly of disease, and digital feet anomalies Orofaciodigital, type I Lobulated tongue, median Adult-onset polycystic kidneys XR(311200)CXOR5 pseudocleft of lip, cleft palate hypoplastic alae nasl, digital anomalies mental impairment