<unk>  is characterised by renal tubular insufficiency, cholestatic jaundice, predisposition to infection, failure to thrive and multiple congenital anomalies. It has been described in six male infants from three families, two of which were consanguineous. Transmission is either autosomal or X-linked recessive.
Lutz-Richner and Landolt syndrome
Peutz-Jeghers syndrome
Ellis-van Creveld syndrome
Opitz-Frias syndrome
Cruveilhier-Baumgarten syndrome
Smith-Lemli-Opitz syndrome
Prader-Willi syndrome
Fitzsimmons-Walson-Mellor syndrome