Nephronophthisis 2 Hypertension, pulmonary Cortical microcysts, tubular AR (602088) S hypoplasia phy, chronic tubulointerstitial nephritis, enlarged hyperechoic kidneys, absence of corticomedulla differentiation renal failure by age 3 Potter oligohydramnios Clinical features resulting from Bilateral renal agenesis, aplasia, Heterogeneous sequence oligohydramnios hypoplasia, or dysplasia Renal dysplasia Internal genital tract anomalies: Renal agenesis, hypoplasia AD(191830 RET, UPKA occasional anomalies of or dysplasia; ureteral and anus, heart, spine, hands, urethral anomalies and feet Renal-hepatic See table 62-5 ncreatic Sacral defect with ante- Fusion of lower limbs, sacral Urethral atresia, ectopic urethra, AD(600145) VANGL1 rior meningocele agenesis, anal atresia posterior urethral valves (Sirenomelia) uterine/vaginal renal agenesis and dysplasia anomalies, cardiac defects ureteral and bladder anomalies Senior-Loken Pigmentary retinal dysplasia, Renal dysplasia, juvenile AR(266900 NPHP1 (Renal-retinal) occasional hypotonia nephronophthisis, medullary seizures, hearing loss, cystic disease psychomotor retardation Simpson-Golab- Prenatal and postnatal Large cystic dysplastic kidneys, XLR (312870) Behmel overgrowth, variable mental hydronephrosis, duplication function characteristic of renal pelvis, Wilms tumor facial appearance, post- axial polydactyly, structural anomalies ot organ systems