Thyroid dysgenesis because of mutations inTTF-2 (Bamforth Lazarus syndrome) mutations present with CH. Spiky hair and cleft palateTTF-1/NKX2-1 mutations present with CH, lung maturation disorders and choreoathetosisPAX8 mutations with renal agenesis and genito-urinary abnormalitiesGNAS mutation with Albrights hereditary osteodystrophy. Here, NKX2-1 is linked to renal agenesis.