KCTD1 and scalp-ear-nipple syndrome: ,9 Pathogenic variants in KCTD genes have been reported in various human diseases,10 such as scalp-ear-nipple syndrome (KCTD1),11 neurocognitive disorders (KCTD3),12 neurodevelopmental disease (KCTD7),13,14 bipolar disorder (KCTD12), autism and schizophrenia (KCTD13), movement disorder (KCTD17), and obesity (KCTD15).15