8p11.2 Deletion Syndrome

8p11.2 Deletion Syndrome, also known as monosomy 8p11.2, is related to hypogonadotropic hypogonadism 7 with or without anosmia and muscular dystrophy, becker type. An important gene associated with 8p11.2 Deletion Syndrome is ANK1 (Ankyrin 1). Affiliated tissues include hypothalamus and pituitary, and related phenotypes are intellectual disability and global developmental delay